Canonical Allele Identifier: CA375686563
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257427G>C , CM000671.2:g.133257427G>C GRCh38
NC_000009.11:g.136132814G>C , CM000671.1:g.136132814G>C GRCh37
NC_000009.10:g.135122635G>C NCBI36
NG_006669.1:g.20241C>G
NG_006669.2:g.22789C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.385C>G
ENST00000647353.1:n.54-6275C>G
ENST00000651471.1:n.329+615C>G
ENST00000679909.1:c.28+17735C>G ENSP00000506089.1:n.28+17735C>G
ENST00000453660.3:n.367C>G
ENST00000538324.2:c.353C>G ENSP00000483018.1:p.Thr118Ser
ENST00000611156.4:c.353C>G ENSP00000483265.1:p.Thr118Ser
NM_020469.2:c.356C>G NP_065202.2:p.Thr119Ser
NM_020469.3:c.356C>G NP_065202.2:p.Thr119Ser