Canonical Allele Identifier: CA375685448

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131408T>A (hg19) ; chr9:g.133256021T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256021T>A , CM000671.2:g.133256021T>A	GRCh38
NC_000009.11:g.136131408T>A , CM000671.1:g.136131408T>A	GRCh37
NC_000009.10:g.135121229T>A	NCBI36
NG_006669.1:g.21647A>T
NG_006669.2:g.24195A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.739A>T
ENST00000647353.1:n.54-4869A>T
ENST00000679909.1:c.28+19141A>T	ENSP00000506089.1:n.28+19141A>T
ENST00000453660.3:n.721A>T
ENST00000538324.2:c.707A>T	ENSP00000483018.1:p.Tyr236Phe
ENST00000611156.4:c.707A>T	ENSP00000483265.1:p.Tyr236Phe
NM_020469.2:c.710A>T	NP_065202.2:p.Tyr237Phe
NM_020469.3:c.710A>T	NP_065202.2:p.Tyr237Phe