A4GALT alpha 1,4-galactosyltransferase (P1PK blood group)

Information
Symbol
A4GALT
Type
protein-coding
Description
alpha 1,4-galactosyltransferase (P1PK blood group)
Entrez Gene ID
53947
Genome
hg19
Position
chr22:43,088,127-43,090,992
Genome
hg38
Position
chr22:42,692,121-42,694,986
MIM
607922 OMIM
HGNC
HGNC:18149 HGNC
Ensembl
ENSG00000128274 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 20
Likely benign 0 40
Affects 0 8
Uncertain significance 0 96
Ranking
ClinVar
0
0
14
142
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM A14GALT
SYNONYM A4GALT1
SYNONYM Gb3S
SYNONYM P(k)
SYNONYM P1
SYNONYM P1PK
SYNONYM PK
MIM 607922 OMIM
HGNC HGNC:18149 HGNC
Ensembl ENSG00000128274 Ensembl
AllianceGenome HGNC:18149
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000401850.5 hg38 chr22 42,692,121 42,694,986 2,866
ENST00000381278.4 hg38 chr22 42,692,122 42,720,819 28,698
ENST00000642412.2 hg38 chr22 42,692,121 42,720,870 28,750
ENST00000249005.3 hg38 chr22 42,692,122 42,695,633 3,512
ENST00000401850.5 hg19 chr22 43,088,127 43,090,992 2,866
ENST00000642412.2 hg19 chr22 43,088,127 43,116,876 28,750
ENST00000249005.3 hg19 chr22 43,088,128 43,091,639 3,512
ENST00000381278.4 hg19 chr22 43,088,128 43,116,825 28,698
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