Canonical Allele Identifier: CA5305823

Gene: ABO

Linked Data

• dbSNP Id: rs573234689
• ExAC: 9:136131616 G / C
• gnomAD v2: 9-136131616-G-C
• gnomAD v3: 9-133256229-G-C
• gnomAD v4: 9-133256229-G-C
• MyVariant Identifiers: chr9:g.136131616G>C (hg19) ; chr9:g.133256229G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256229G>C , CM000671.2:g.133256229G>C	GRCh38
NC_000009.11:g.136131616G>C , CM000671.1:g.136131616G>C	GRCh37
NC_000009.10:g.135121437G>C	NCBI36
NG_006669.1:g.21439C>G
NG_006669.2:g.23987C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.531C>G
ENST00000647353.1:n.54-5077C>G
ENST00000651471.1:n.457C>G
ENST00000679909.1:c.28+18933C>G	ENSP00000506089.1:n.28+18933C>G
ENST00000453660.3:n.513C>G
ENST00000538324.2:c.499C>G	ENSP00000483018.1:p.Arg167Gly
ENST00000611156.4:c.499C>G	ENSP00000483265.1:p.Arg167Gly
NM_020469.2:c.502C>G	NP_065202.2:p.Arg168Gly
NM_020469.3:c.502C>G	NP_065202.2:p.Arg168Gly