Canonical Allele Identifier: CA375683045
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255665C>G , CM000671.2:g.133255665C>G GRCh38
NC_000009.11:g.136131052C>G , CM000671.1:g.136131052C>G GRCh37
NC_000009.10:g.135120873C>G NCBI36
NG_006669.1:g.22003G>C
NG_006669.2:g.24551G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1095G>C
ENST00000647353.1:n.54-4513G>C
ENST00000679909.1:c.28+19497G>C ENSP00000506089.1:n.28+19497G>C
ENST00000453660.3:n.1077G>C
ENST00000538324.2:c.1059G>C ENSP00000483018.1:p.Glu353Asp
ENST00000611156.4:c.*1G>C ENSP00000483265.1:n.*1G>C
NM_020469.2:c.*1G>C NP_065202.2:n.*1G>C
NM_020469.3:c.*1G>C NP_065202.2:n.*1G>C