Canonical Allele Identifier: CA375686718
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257499A>G , CM000671.2:g.133257499A>G GRCh38
NC_000009.11:g.136132886A>G , CM000671.1:g.136132886A>G GRCh37
NC_000009.10:g.135122707A>G NCBI36
NG_006669.1:g.20169T>C
NG_006669.2:g.22717T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.313T>C
ENST00000647353.1:n.54-6347T>C
ENST00000651471.1:n.329+543T>C
ENST00000679909.1:c.28+17663T>C ENSP00000506089.1:n.28+17663T>C
ENST00000453660.3:n.295T>C
ENST00000538324.2:c.281T>C ENSP00000483018.1:p.Val94Ala
ENST00000611156.4:c.281T>C ENSP00000483265.1:p.Val94Ala
NM_020469.2:c.284T>C NP_065202.2:p.Val95Ala
NM_020469.3:c.284T>C NP_065202.2:p.Val95Ala