Canonical Allele Identifier: CA375683162

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131066A>C (hg19) ; chr9:g.133255679A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255679A>C , CM000671.2:g.133255679A>C	GRCh38
NC_000009.11:g.136131066A>C , CM000671.1:g.136131066A>C	GRCh37
NC_000009.10:g.135120887A>C	NCBI36
NG_006669.1:g.21989T>G
NG_006669.2:g.24537T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1081T>G
ENST00000647353.1:n.54-4527T>G
ENST00000679909.1:c.28+19483T>G	ENSP00000506089.1:n.28+19483T>G
ENST00000453660.3:n.1063T>G
ENST00000538324.2:c.1049T>G	ENSP00000483018.1:p.Val350Gly
ENST00000611156.4:c.1049T>G	ENSP00000483265.1:p.Val350Gly
NM_020469.2:c.1052T>G	NP_065202.2:p.Val351Gly
NM_020469.3:c.1052T>G	NP_065202.2:p.Val351Gly