Canonical Allele Identifier: CA5305815
Gene: ABO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256205G>C , CM000671.2:g.133256205G>C GRCh38
NC_000009.11:g.136131592G>C , CM000671.1:g.136131592G>C GRCh37
NC_000009.10:g.135121413G>C NCBI36
NG_006669.1:g.21463C>G
NG_006669.2:g.24011C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.555C>G
ENST00000647353.1:n.54-5053C>G
ENST00000651471.1:n.481C>G
ENST00000679909.1:c.28+18957C>G ENSP00000506089.1:n.28+18957C>G
ENST00000453660.3:n.537C>G
ENST00000538324.2:c.523C>G ENSP00000483018.1:p.Arg175Gly
ENST00000611156.4:c.523C>G ENSP00000483265.1:p.Arg175Gly
NM_020469.2:c.526C>G NP_065202.2:p.Arg176Gly
NM_020469.3:c.526C>G NP_065202.2:p.Arg176Gly