Canonical Allele Identifier: CA375684191
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255816G>C , CM000671.2:g.133255816G>C GRCh38
NC_000009.11:g.136131203G>C , CM000671.1:g.136131203G>C GRCh37
NC_000009.10:g.135121024G>C NCBI36
NG_006669.1:g.21852C>G
NG_006669.2:g.24400C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.944C>G
ENST00000647353.1:n.54-4664C>G
ENST00000679909.1:c.28+19346C>G ENSP00000506089.1:n.28+19346C>G
ENST00000453660.3:n.926C>G
ENST00000538324.2:c.912C>G ENSP00000483018.1:p.His304Gln
ENST00000611156.4:c.912C>G ENSP00000483265.1:p.His304Gln
NM_020469.2:c.915C>G NP_065202.2:p.His305Gln
NM_020469.3:c.915C>G NP_065202.2:p.His305Gln