Canonical Allele Identifier: CA375683580
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255733G>A , CM000671.2:g.133255733G>A GRCh38
NC_000009.11:g.136131120G>A , CM000671.1:g.136131120G>A GRCh37
NC_000009.10:g.135120941G>A NCBI36
NG_006669.1:g.21935C>T
NG_006669.2:g.24483C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1027C>T
ENST00000647353.1:n.54-4581C>T
ENST00000679909.1:c.28+19429C>T ENSP00000506089.1:n.28+19429C>T
ENST00000453660.3:n.1009C>T
ENST00000538324.2:c.995C>T ENSP00000483018.1:p.Pro332Leu
ENST00000611156.4:c.995C>T ENSP00000483265.1:p.Pro332Leu
NM_020469.2:c.998C>T NP_065202.2:p.Pro333Leu
NM_020469.3:c.998C>T NP_065202.2:p.Pro333Leu