Canonical Allele Identifier: CA375685053

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131313A>C (hg19) ; chr9:g.133255926A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255926A>C , CM000671.2:g.133255926A>C	GRCh38
NC_000009.11:g.136131313A>C , CM000671.1:g.136131313A>C	GRCh37
NC_000009.10:g.135121134A>C	NCBI36
NG_006669.1:g.21742T>G
NG_006669.2:g.24290T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.834T>G
ENST00000647353.1:n.54-4774T>G
ENST00000679909.1:c.28+19236T>G	ENSP00000506089.1:n.28+19236T>G
ENST00000453660.3:n.816T>G
ENST00000538324.2:c.802T>G	ENSP00000483018.1:p.Phe268Val
ENST00000611156.4:c.802T>G	ENSP00000483265.1:p.Phe268Val
NM_020469.2:c.805T>G	NP_065202.2:p.Phe269Val
NM_020469.3:c.805T>G	NP_065202.2:p.Phe269Val