Canonical Allele Identifier: CA375686553

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257421A>T , CM000671.2:g.133257421A>T	GRCh38
NC_000009.11:g.136132808A>T , CM000671.1:g.136132808A>T	GRCh37
NC_000009.10:g.135122629A>T	NCBI36
NG_006669.1:g.20247T>A
NG_006669.2:g.22795T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.391T>A
ENST00000647353.1:n.54-6269T>A
ENST00000651471.1:n.329+621T>A
ENST00000679909.1:c.28+17741T>A	ENSP00000506089.1:n.28+17741T>A
ENST00000453660.3:n.373T>A
ENST00000538324.2:c.359T>A	ENSP00000483018.1:p.Phe120Tyr
ENST00000611156.4:c.359T>A	ENSP00000483265.1:p.Phe120Tyr
NM_020469.2:c.362T>A	NP_065202.2:p.Phe121Tyr
NM_020469.3:c.362T>A	NP_065202.2:p.Phe121Tyr