Canonical Allele Identifier: CA375683659
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255747C>G , CM000671.2:g.133255747C>G GRCh38
NC_000009.11:g.136131134C>G , CM000671.1:g.136131134C>G GRCh37
NC_000009.10:g.135120955C>G NCBI36
NG_006669.1:g.21921G>C
NG_006669.2:g.24469G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1013G>C
ENST00000647353.1:n.54-4595G>C
ENST00000679909.1:c.28+19415G>C ENSP00000506089.1:n.28+19415G>C
ENST00000453660.3:n.995G>C
ENST00000538324.2:c.981G>C ENSP00000483018.1:p.Gln327His
ENST00000611156.4:c.981G>C ENSP00000483265.1:p.Gln327His
NM_020469.2:c.984G>C NP_065202.2:p.Gln328His
NM_020469.3:c.984G>C NP_065202.2:p.Gln328His