Canonical Allele Identifier: CA5305822

Gene: ABO

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.531C>T
ENST00000647353.1:n.54-5077C>T
ENST00000651471.1:n.457C>T
ENST00000679909.1:c.28+18933C>T	ENSP00000506089.1:n.28+18933C>T
ENST00000453660.3:n.513C>T
ENST00000538324.2:c.499C>T	ENSP00000483018.1:p.Arg167Trp
ENST00000611156.4:c.499C>T	ENSP00000483265.1:p.Arg167Trp
NM_020469.2:c.502C>T	NP_065202.2:p.Arg168Trp
NM_020469.3:c.502C>T	NP_065202.2:p.Arg168Trp