Canonical Allele Identifier: CA122806
Gene: AHCY HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12953
dbSNP Id: rs121918608

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34292375T>C , CM000682.2:g.34292375T>C GRCh38
NC_000020.10:g.32880181T>C , CM000682.1:g.32880181T>C GRCh37
NC_000020.9:g.32343842T>C NCBI36
NG_012630.1:g.24428A>G
NG_012630.2:g.24428A>G

Transcript Alleles

HGVS Amino-acid change
NM_000687.2:c.428A>G VV NP_000678.1:p.Tyr143Cys
NM_001161766.1:c.344A>G VV NP_001155238.1:p.Tyr115Cys
XM_005260316.3:c.344A>G XP_005260373.1:p.Tyr115Cys
XM_005260317.1:c.344A>G XP_005260374.1:p.Tyr115Cys
XM_011528656.1:c.344A>G XP_011526958.1:p.Tyr115Cys
XM_011528657.1:c.344A>G XP_011526959.1:p.Tyr115Cys
XM_011528658.1:c.344A>G XP_011526960.1:p.Tyr115Cys
XM_011528659.1:c.344A>G XP_011526961.1:p.Tyr115Cys
XM_011528660.1:c.344A>G XP_011526962.1:p.Tyr115Cys
NM_000687.3:c.428A>G VV
NM_001322084.1:c.344A>G VV NP_001309013.1:p.Tyr115Cys
NM_001322085.1:c.344A>G VV NP_001309014.1:p.Tyr115Cys
NM_001322086.1:c.434A>G VV NP_001309015.1:p.Tyr145Cys
NM_001362750.1:c.428A>G VV NP_001349679.1:p.Tyr143Cys
XM_005260317.2:c.344A>G
XM_011528656.3:c.434A>G XP_011526958.2:p.Tyr145Cys
XM_011528657.2:c.434A>G XP_011526959.2:p.Tyr145Cys
XM_011528658.3:c.434A>G XP_011526960.2:p.Tyr145Cys
XM_017027709.2:c.428A>G XP_016883198.1:p.Tyr143Cys
XM_017027710.2:c.50A>G XP_016883199.1:p.Tyr17Cys
NM_000687.4:c.428A>G VV MANE Preferred
ENST00000217426.6:c.428A>G ENSP00000217426.2:p.Tyr143Cys
ENST00000468908.1:n.591A>G
ENST00000480653.5:n.475A>G
ENST00000538132.1:c.344A>G ENSP00000442820.1:p.Tyr115Cys