Canonical Allele Identifier: CA375685294

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131378T>A (hg19) ; chr9:g.133255991T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255991T>A , CM000671.2:g.133255991T>A	GRCh38
NC_000009.11:g.136131378T>A , CM000671.1:g.136131378T>A	GRCh37
NC_000009.10:g.135121199T>A	NCBI36
NG_006669.1:g.21677A>T
NG_006669.2:g.24225A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.769A>T
ENST00000647353.1:n.54-4839A>T
ENST00000679909.1:c.28+19171A>T	ENSP00000506089.1:n.28+19171A>T
ENST00000453660.3:n.751A>T
ENST00000538324.2:c.737A>T	ENSP00000483018.1:p.Glu246Val
ENST00000611156.4:c.737A>T	ENSP00000483265.1:p.Glu246Val
NM_020469.2:c.740A>T	NP_065202.2:p.Glu247Val
NM_020469.3:c.740A>T	NP_065202.2:p.Glu247Val