Canonical Allele Identifier: CA375683927
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255781T>C , CM000671.2:g.133255781T>C GRCh38
NC_000009.11:g.136131168T>C , CM000671.1:g.136131168T>C GRCh37
NC_000009.10:g.135120989T>C NCBI36
NG_006669.1:g.21887A>G
NG_006669.2:g.24435A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.979A>G
ENST00000647353.1:n.54-4629A>G
ENST00000679909.1:c.28+19381A>G ENSP00000506089.1:n.28+19381A>G
ENST00000453660.3:n.961A>G
ENST00000538324.2:c.947A>G ENSP00000483018.1:p.Lys316Arg
ENST00000611156.4:c.947A>G ENSP00000483265.1:p.Lys316Arg
NM_020469.2:c.950A>G NP_065202.2:p.Lys317Arg
NM_020469.3:c.950A>G NP_065202.2:p.Lys317Arg