Canonical Allele Identifier: CA375686399
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256308G>T , CM000671.2:g.133256308G>T GRCh38
NC_000009.11:g.136131695G>T , CM000671.1:g.136131695G>T GRCh37
NC_000009.10:g.135121516G>T NCBI36
NG_006669.1:g.21360C>A
NG_006669.2:g.23908C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.452C>A
ENST00000647353.1:n.54-5156C>A
ENST00000651471.1:n.378C>A
ENST00000679909.1:c.28+18854C>A ENSP00000506089.1:n.28+18854C>A
ENST00000453660.3:n.434C>A
ENST00000538324.2:c.420C>A ENSP00000483018.1:p.Phe140Leu
ENST00000611156.4:c.420C>A ENSP00000483265.1:p.Phe140Leu
NM_020469.2:c.423C>A NP_065202.2:p.Phe141Leu
NM_020469.3:c.423C>A NP_065202.2:p.Phe141Leu