Canonical Allele Identifier: CA375686456
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256334A>C , CM000671.2:g.133256334A>C GRCh38
NC_000009.11:g.136131721A>C , CM000671.1:g.136131721A>C GRCh37
NC_000009.10:g.135121542A>C NCBI36
NG_006669.1:g.21334T>G
NG_006669.2:g.23882T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.426T>G
ENST00000647353.1:n.54-5182T>G
ENST00000651471.1:n.352T>G
ENST00000679909.1:c.28+18828T>G ENSP00000506089.1:n.28+18828T>G
ENST00000453660.3:n.408T>G
ENST00000538324.2:c.394T>G ENSP00000483018.1:p.Phe132Val
ENST00000611156.4:c.394T>G ENSP00000483265.1:p.Phe132Val
NM_020469.2:c.397T>G NP_065202.2:p.Phe133Val
NM_020469.3:c.397T>G NP_065202.2:p.Phe133Val