Canonical Allele Identifier: CA375686569

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257429T>G , CM000671.2:g.133257429T>G	GRCh38
NC_000009.11:g.136132816T>G , CM000671.1:g.136132816T>G	GRCh37
NC_000009.10:g.135122637T>G	NCBI36
NG_006669.1:g.20239A>C
NG_006669.2:g.22787A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.383A>C
ENST00000647353.1:n.54-6277A>C
ENST00000651471.1:n.329+613A>C
ENST00000679909.1:c.28+17733A>C	ENSP00000506089.1:n.28+17733A>C
ENST00000453660.3:n.365A>C
ENST00000538324.2:c.351A>C	ENSP00000483018.1:p.Leu117Phe
ENST00000611156.4:c.351A>C	ENSP00000483265.1:p.Leu117Phe
NM_020469.2:c.354A>C	NP_065202.2:p.Leu118Phe
NM_020469.3:c.354A>C	NP_065202.2:p.Leu118Phe