Canonical Allele Identifier: CA375686449
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256330A>T , CM000671.2:g.133256330A>T GRCh38
NC_000009.11:g.136131717A>T , CM000671.1:g.136131717A>T GRCh37
NC_000009.10:g.135121538A>T NCBI36
NG_006669.1:g.21338T>A
NG_006669.2:g.23886T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.430T>A
ENST00000647353.1:n.54-5178T>A
ENST00000651471.1:n.356T>A
ENST00000679909.1:c.28+18832T>A ENSP00000506089.1:n.28+18832T>A
ENST00000453660.3:n.412T>A
ENST00000538324.2:c.398T>A ENSP00000483018.1:p.Leu133Gln
ENST00000611156.4:c.398T>A ENSP00000483265.1:p.Leu133Gln
NM_020469.2:c.401T>A NP_065202.2:p.Leu134Gln
NM_020469.3:c.401T>A NP_065202.2:p.Leu134Gln