Canonical Allele Identifier: CA375684182
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255814A>T , CM000671.2:g.133255814A>T GRCh38
NC_000009.11:g.136131201A>T , CM000671.1:g.136131201A>T GRCh37
NC_000009.10:g.135121022A>T NCBI36
NG_006669.1:g.21854T>A
NG_006669.2:g.24402T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.946T>A
ENST00000647353.1:n.54-4662T>A
ENST00000679909.1:c.28+19348T>A ENSP00000506089.1:n.28+19348T>A
ENST00000453660.3:n.928T>A
ENST00000538324.2:c.914T>A ENSP00000483018.1:p.Leu305Gln
ENST00000611156.4:c.914T>A ENSP00000483265.1:p.Leu305Gln
NM_020469.2:c.917T>A NP_065202.2:p.Leu306Gln
NM_020469.3:c.917T>A NP_065202.2:p.Leu306Gln