Canonical Allele Identifier: CA5305749

Gene: ABO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255988C>T , CM000671.2:g.133255988C>T	GRCh38
NC_000009.11:g.136131375C>T , CM000671.1:g.136131375C>T	GRCh37
NC_000009.10:g.135121196C>T	NCBI36
NG_006669.1:g.21680G>A
NG_006669.2:g.24228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.772G>A
ENST00000647353.1:n.54-4836G>A
ENST00000679909.1:c.28+19174G>A	ENSP00000506089.1:n.28+19174G>A
ENST00000453660.3:n.754G>A
ENST00000538324.2:c.740G>A	ENSP00000483018.1:p.Arg247His
ENST00000611156.4:c.740G>A	ENSP00000483265.1:p.Arg247His
NM_020469.2:c.743G>A	NP_065202.2:p.Arg248His
NM_020469.3:c.743G>A	NP_065202.2:p.Arg248His