Canonical Allele Identifier: CA375685212

Gene: ABO

Linked Data

• dbSNP Id: rs1239067860
• gnomAD v2: 9-136131339-T-A
• gnomAD v4: 9-133255952-T-A
• MyVariant Identifiers: chr9:g.136131339T>A (hg19) ; chr9:g.133255952T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255952T>A , CM000671.2:g.133255952T>A	GRCh38
NC_000009.11:g.136131339T>A , CM000671.1:g.136131339T>A	GRCh37
NC_000009.10:g.135121160T>A	NCBI36
NG_006669.1:g.21716A>T
NG_006669.2:g.24264A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.808A>T
ENST00000647353.1:n.54-4800A>T
ENST00000679909.1:c.28+19210A>T	ENSP00000506089.1:n.28+19210A>T
ENST00000453660.3:n.790A>T
ENST00000538324.2:c.776A>T	ENSP00000483018.1:p.Glu259Val
ENST00000611156.4:c.776A>T	ENSP00000483265.1:p.Glu259Val
NM_020469.2:c.779A>T	NP_065202.2:p.Glu260Val
NM_020469.3:c.779A>T	NP_065202.2:p.Glu260Val