Canonical Allele Identifier: CA375685076

Gene: ABO

Linked Data

• dbSNP Id: rs41302905
• gnomAD v4: 9-133255929-C-G
• MyVariant Identifiers: chr9:g.136131316C>G (hg19) ; chr9:g.133255929C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255929C>G , CM000671.2:g.133255929C>G	GRCh38
NC_000009.11:g.136131316C>G , CM000671.1:g.136131316C>G	GRCh37
NC_000009.10:g.135121137C>G	NCBI36
NG_006669.1:g.21739G>C
NG_006669.2:g.24287G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.831G>C
ENST00000647353.1:n.54-4777G>C
ENST00000679909.1:c.28+19233G>C	ENSP00000506089.1:n.28+19233G>C
ENST00000453660.3:n.813G>C
ENST00000538324.2:c.799G>C	ENSP00000483018.1:p.Gly267Arg
ENST00000611156.4:c.799G>C	ENSP00000483265.1:p.Gly267Arg
NM_020469.2:c.802G>C	NP_065202.2:p.Gly268Arg
NM_020469.3:c.802G>C	NP_065202.2:p.Gly268Arg