Canonical Allele Identifier: CA375686194
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256207A>G , CM000671.2:g.133256207A>G GRCh38
NC_000009.11:g.136131594A>G , CM000671.1:g.136131594A>G GRCh37
NC_000009.10:g.135121415A>G NCBI36
NG_006669.1:g.21461T>C
NG_006669.2:g.24009T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.553T>C
ENST00000647353.1:n.54-5055T>C
ENST00000651471.1:n.479T>C
ENST00000679909.1:c.28+18955T>C ENSP00000506089.1:n.28+18955T>C
ENST00000453660.3:n.535T>C
ENST00000538324.2:c.521T>C ENSP00000483018.1:p.Val174Ala
ENST00000611156.4:c.521T>C ENSP00000483265.1:p.Val174Ala
NM_020469.2:c.524T>C NP_065202.2:p.Val175Ala
NM_020469.3:c.524T>C NP_065202.2:p.Val175Ala