Canonical Allele Identifier: CA375686554
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257422A>C , CM000671.2:g.133257422A>C GRCh38
NC_000009.11:g.136132809A>C , CM000671.1:g.136132809A>C GRCh37
NC_000009.10:g.135122630A>C NCBI36
NG_006669.1:g.20246T>G
NG_006669.2:g.22794T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.390T>G
ENST00000647353.1:n.54-6270T>G
ENST00000651471.1:n.329+620T>G
ENST00000679909.1:c.28+17740T>G ENSP00000506089.1:n.28+17740T>G
ENST00000453660.3:n.372T>G
ENST00000538324.2:c.358T>G ENSP00000483018.1:p.Phe120Val
ENST00000611156.4:c.358T>G ENSP00000483265.1:p.Phe120Val
NM_020469.2:c.361T>G NP_065202.2:p.Phe121Val
NM_020469.3:c.361T>G NP_065202.2:p.Phe121Val