Canonical Allele Identifier: CA375685226

Gene: ABO

Linked Data

• gnomAD v3: 9-133255958-T-C
• gnomAD v4: 9-133255958-T-C
• MyVariant Identifiers: chr9:g.136131345T>C (hg19) ; chr9:g.133255958T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255958T>C , CM000671.2:g.133255958T>C	GRCh38
NC_000009.11:g.136131345T>C , CM000671.1:g.136131345T>C	GRCh37
NC_000009.10:g.135121166T>C	NCBI36
NG_006669.1:g.21710A>G
NG_006669.2:g.24258A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.802A>G
ENST00000647353.1:n.54-4806A>G
ENST00000679909.1:c.28+19204A>G	ENSP00000506089.1:n.28+19204A>G
ENST00000453660.3:n.784A>G
ENST00000538324.2:c.770A>G	ENSP00000483018.1:p.Lys257Arg
ENST00000611156.4:c.770A>G	ENSP00000483265.1:p.Lys257Arg
NM_020469.2:c.773A>G	NP_065202.2:p.Lys258Arg
NM_020469.3:c.773A>G	NP_065202.2:p.Lys258Arg