Canonical Allele Identifier: CA375686768
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257523C>G , CM000671.2:g.133257523C>G GRCh38
NC_000009.11:g.136132910C>G , CM000671.1:g.136132910C>G GRCh37
NC_000009.10:g.135122731C>G NCBI36
NG_006669.1:g.20144G>C
NG_006669.2:g.22692G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.289G>C
ENST00000647353.1:n.54-6371G>C
ENST00000651471.1:n.329+519G>C
ENST00000679909.1:c.28+17639G>C ENSP00000506089.1:n.28+17639G>C
ENST00000453660.3:n.271G>C
ENST00000538324.2:c.259-2G>C ENSP00000483018.1:n.259-2G>C
ENST00000611156.4:c.259-2G>C ENSP00000483265.1:n.259-2G>C
NM_020469.2:c.259G>C NP_065202.2:p.Val87Leu
NM_020469.3:c.259G>C NP_065202.2:p.Val87Leu