Canonical Allele Identifier: CA375686285

Gene: ABO

Linked Data

• dbSNP Id: rs1192853615
• gnomAD v2: 9-136131645-G-A
• gnomAD v3: 9-133256258-G-A
• gnomAD v4: 9-133256258-G-A
• COSMIC: COSM3905255
• MyVariant Identifiers: chr9:g.136131645G>A (hg19) ; chr9:g.133256258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256258G>A , CM000671.2:g.133256258G>A	GRCh38
NC_000009.11:g.136131645G>A , CM000671.1:g.136131645G>A	GRCh37
NC_000009.10:g.135121466G>A	NCBI36
NG_006669.1:g.21410C>T
NG_006669.2:g.23958C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.502C>T
ENST00000647353.1:n.54-5106C>T
ENST00000651471.1:n.428C>T
ENST00000679909.1:c.28+18904C>T	ENSP00000506089.1:n.28+18904C>T
ENST00000453660.3:n.484C>T
ENST00000538324.2:c.470C>T	ENSP00000483018.1:p.Ala157Val
ENST00000611156.4:c.470C>T	ENSP00000483265.1:p.Ala157Val
NM_020469.2:c.473C>T	NP_065202.2:p.Ala158Val
NM_020469.3:c.473C>T	NP_065202.2:p.Ala158Val