Canonical Allele Identifier: CA375685352
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256005C>G , CM000671.2:g.133256005C>G GRCh38
NC_000009.11:g.136131392C>G , CM000671.1:g.136131392C>G GRCh37
NC_000009.10:g.135121213C>G NCBI36
NG_006669.1:g.21663G>C
NG_006669.2:g.24211G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.755G>C
ENST00000647353.1:n.54-4853G>C
ENST00000679909.1:c.28+19157G>C ENSP00000506089.1:n.28+19157G>C
ENST00000453660.3:n.737G>C
ENST00000538324.2:c.723G>C ENSP00000483018.1:p.Glu241Asp
ENST00000611156.4:c.723G>C ENSP00000483265.1:p.Glu241Asp
NM_020469.2:c.726G>C NP_065202.2:p.Glu242Asp
NM_020469.3:c.726G>C NP_065202.2:p.Glu242Asp