Canonical Allele Identifier: CA375686549

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257420A>C , CM000671.2:g.133257420A>C	GRCh38
NC_000009.11:g.136132807A>C , CM000671.1:g.136132807A>C	GRCh37
NC_000009.10:g.135122628A>C	NCBI36
NG_006669.1:g.20248T>G
NG_006669.2:g.22796T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.392T>G
ENST00000647353.1:n.54-6268T>G
ENST00000651471.1:n.329+622T>G
ENST00000679909.1:c.28+17742T>G	ENSP00000506089.1:n.28+17742T>G
ENST00000453660.3:n.374T>G
ENST00000538324.2:c.360T>G	ENSP00000483018.1:p.Phe120Leu
ENST00000611156.4:c.360T>G	ENSP00000483265.1:p.Phe120Leu
NM_020469.2:c.363T>G	NP_065202.2:p.Phe121Leu
NM_020469.3:c.363T>G	NP_065202.2:p.Phe121Leu