Canonical Allele Identifier: CA375683706
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255753G>C , CM000671.2:g.133255753G>C GRCh38
NC_000009.11:g.136131140G>C , CM000671.1:g.136131140G>C GRCh37
NC_000009.10:g.135120961G>C NCBI36
NG_006669.1:g.21915C>G
NG_006669.2:g.24463C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1007C>G
ENST00000647353.1:n.54-4601C>G
ENST00000679909.1:c.28+19409C>G ENSP00000506089.1:n.28+19409C>G
ENST00000453660.3:n.989C>G
ENST00000538324.2:c.975C>G ENSP00000483018.1:p.Asp325Glu
ENST00000611156.4:c.975C>G ENSP00000483265.1:p.Asp325Glu
NM_020469.2:c.978C>G NP_065202.2:p.Asp326Glu
NM_020469.3:c.978C>G NP_065202.2:p.Asp326Glu