Canonical Allele Identifier: CA375686224
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256222A>T , CM000671.2:g.133256222A>T GRCh38
NC_000009.11:g.136131609A>T , CM000671.1:g.136131609A>T GRCh37
NC_000009.10:g.135121430A>T NCBI36
NG_006669.1:g.21446T>A
NG_006669.2:g.23994T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.538T>A
ENST00000647353.1:n.54-5070T>A
ENST00000651471.1:n.464T>A
ENST00000679909.1:c.28+18940T>A ENSP00000506089.1:n.28+18940T>A
ENST00000453660.3:n.520T>A
ENST00000538324.2:c.506T>A ENSP00000483018.1:p.Leu169Gln
ENST00000611156.4:c.506T>A ENSP00000483265.1:p.Leu169Gln
NM_020469.2:c.509T>A NP_065202.2:p.Leu170Gln
NM_020469.3:c.509T>A NP_065202.2:p.Leu170Gln