Canonical Allele Identifier: CA375685159

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131331A>C (hg19) ; chr9:g.133255944A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255944A>C , CM000671.2:g.133255944A>C	GRCh38
NC_000009.11:g.136131331A>C , CM000671.1:g.136131331A>C	GRCh37
NC_000009.10:g.135121152A>C	NCBI36
NG_006669.1:g.21724T>G
NG_006669.2:g.24272T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.816T>G
ENST00000647353.1:n.54-4792T>G
ENST00000679909.1:c.28+19218T>G	ENSP00000506089.1:n.28+19218T>G
ENST00000453660.3:n.798T>G
ENST00000538324.2:c.784T>G	ENSP00000483018.1:p.Phe262Val
ENST00000611156.4:c.784T>G	ENSP00000483265.1:p.Phe262Val
NM_020469.2:c.787T>G	NP_065202.2:p.Phe263Val
NM_020469.3:c.787T>G	NP_065202.2:p.Phe263Val