Canonical Allele Identifier: CA375686709
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257495C>G , CM000671.2:g.133257495C>G GRCh38
NC_000009.11:g.136132882C>G , CM000671.1:g.136132882C>G GRCh37
NC_000009.10:g.135122703C>G NCBI36
NG_006669.1:g.20173G>C
NG_006669.2:g.22721G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.317G>C
ENST00000647353.1:n.54-6343G>C
ENST00000651471.1:n.329+547G>C
ENST00000679909.1:c.28+17667G>C ENSP00000506089.1:n.28+17667G>C
ENST00000453660.3:n.299G>C
ENST00000538324.2:c.285G>C ENSP00000483018.1:p.Trp95Cys
ENST00000611156.4:c.285G>C ENSP00000483265.1:p.Trp95Cys
NM_020469.2:c.288G>C NP_065202.2:p.Trp96Cys
NM_020469.3:c.288G>C NP_065202.2:p.Trp96Cys