Canonical Allele Identifier: CA375684521

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131240G>A (hg19) ; chr9:g.133255853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255853G>A , CM000671.2:g.133255853G>A	GRCh38
NC_000009.11:g.136131240G>A , CM000671.1:g.136131240G>A	GRCh37
NC_000009.10:g.135121061G>A	NCBI36
NG_006669.1:g.21815C>T
NG_006669.2:g.24363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.907C>T
ENST00000647353.1:n.54-4701C>T
ENST00000679909.1:c.28+19309C>T	ENSP00000506089.1:n.28+19309C>T
ENST00000453660.3:n.889C>T
ENST00000538324.2:c.875C>T	ENSP00000483018.1:p.Ala292Val
ENST00000611156.4:c.875C>T	ENSP00000483265.1:p.Ala292Val
NM_020469.2:c.878C>T	NP_065202.2:p.Ala293Val
NM_020469.3:c.878C>T	NP_065202.2:p.Ala293Val