Canonical Allele Identifier: CA375683806
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255763T>C , CM000671.2:g.133255763T>C GRCh38
NC_000009.11:g.136131150T>C , CM000671.1:g.136131150T>C GRCh37
NC_000009.10:g.135120971T>C NCBI36
NG_006669.1:g.21905A>G
NG_006669.2:g.24453A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.997A>G
ENST00000647353.1:n.54-4611A>G
ENST00000679909.1:c.28+19399A>G ENSP00000506089.1:n.28+19399A>G
ENST00000453660.3:n.979A>G
ENST00000538324.2:c.965A>G ENSP00000483018.1:p.Tyr322Cys
ENST00000611156.4:c.965A>G ENSP00000483265.1:p.Tyr322Cys
NM_020469.2:c.968A>G NP_065202.2:p.Tyr323Cys
NM_020469.3:c.968A>G NP_065202.2:p.Tyr323Cys