Canonical Allele Identifier: CA5305778

Gene: ABO

Linked Data

• dbSNP Id: rs56408700
• ExAC: 9:136131469 G / A
• gnomAD v2: 9-136131469-G-A
• gnomAD v3: 9-133256082-G-A
• gnomAD v4: 9-133256082-G-A
• MyVariant Identifiers: chr9:g.136131469G>A (hg19) ; chr9:g.133256082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256082G>A , CM000671.2:g.133256082G>A	GRCh38
NC_000009.11:g.136131469G>A , CM000671.1:g.136131469G>A	GRCh37
NC_000009.10:g.135121290G>A	NCBI36
NG_006669.1:g.21586C>T
NG_006669.2:g.24134C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.678C>T
ENST00000647353.1:n.54-4930C>T
ENST00000679909.1:c.28+19080C>T	ENSP00000506089.1:n.28+19080C>T
ENST00000453660.3:n.660C>T
ENST00000538324.2:c.646C>T	ENSP00000483018.1:p.Arg216Cys
ENST00000611156.4:c.646C>T	ENSP00000483265.1:p.Arg216Cys
NM_020469.2:c.649C>T	NP_065202.2:p.Arg217Cys
NM_020469.3:c.649C>T	NP_065202.2:p.Arg217Cys