Canonical Allele Identifier: CA375686567
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257428T>G , CM000671.2:g.133257428T>G GRCh38
NC_000009.11:g.136132815T>G , CM000671.1:g.136132815T>G GRCh37
NC_000009.10:g.135122636T>G NCBI36
NG_006669.1:g.20240A>C
NG_006669.2:g.22788A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.384A>C
ENST00000647353.1:n.54-6276A>C
ENST00000651471.1:n.329+614A>C
ENST00000679909.1:c.28+17734A>C ENSP00000506089.1:n.28+17734A>C
ENST00000453660.3:n.366A>C
ENST00000538324.2:c.352A>C ENSP00000483018.1:p.Thr118Pro
ENST00000611156.4:c.352A>C ENSP00000483265.1:p.Thr118Pro
NM_020469.2:c.355A>C NP_065202.2:p.Thr119Pro
NM_020469.3:c.355A>C NP_065202.2:p.Thr119Pro