Canonical Allele Identifier: CA408660871
Gene: AHCY HGNC NCBI

Linked Data

dbSNP Id: rs2036545059

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34295456C>G , CM000682.2:g.34295456C>G GRCh38
NC_000020.10:g.32883262C>G , CM000682.1:g.32883262C>G GRCh37
NC_000020.9:g.32346923C>G NCBI36
NG_012630.1:g.21347G>C
NG_012630.2:g.21347G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217426.7:c.158G>C MANE Select ENSP00000217426.2:p.Cys53Ser
ENST00000217426.6:c.158G>C ENSP00000217426.2:p.Cys53Ser
ENST00000468908.1:n.321G>C
ENST00000473516.1:n.461G>C
ENST00000480653.5:n.205G>C
ENST00000538132.1:c.74G>C ENSP00000442820.1:p.Cys25Ser
ENST00000606061.1:n.245G>C
NM_000687.2:c.158G>C NP_000678.1:p.Cys53Ser
NM_001161766.1:c.74G>C NP_001155238.1:p.Cys25Ser
XM_005260316.3:c.74G>C XP_005260373.1:p.Cys25Ser
XM_005260317.1:c.74G>C XP_005260374.1:p.Cys25Ser
XM_011528656.1:c.74G>C XP_011526958.1:p.Cys25Ser
XM_011528657.1:c.74G>C XP_011526959.1:p.Cys25Ser
XM_011528658.1:c.74G>C XP_011526960.1:p.Cys25Ser
XM_011528659.1:c.74G>C XP_011526961.1:p.Cys25Ser
XM_011528660.1:c.74G>C XP_011526962.1:p.Cys25Ser
NM_000687.3:c.158G>C NP_000678.1:p.Cys53Ser
NM_001322084.1:c.74G>C NP_001309013.1:p.Cys25Ser
NM_001322085.1:c.74G>C NP_001309014.1:p.Cys25Ser
NM_001322086.1:c.164G>C NP_001309015.1:p.Cys55Ser
NM_001362750.1:c.158G>C NP_001349679.1:p.Cys53Ser
XM_005260317.2:c.74G>C XP_005260374.1:p.Cys25Ser
XM_011528656.3:c.164G>C XP_011526958.2:p.Cys55Ser
XM_011528657.2:c.164G>C XP_011526959.2:p.Cys55Ser
XM_011528658.3:c.164G>C XP_011526960.2:p.Cys55Ser
XM_017027709.2:c.158G>C XP_016883198.1:p.Cys53Ser
XM_017027710.2:c.-267G>C XP_016883199.1:n.-267G>C
NM_000687.4:c.158G>C MANE Select NP_000678.1:p.Cys53Ser
NM_001322084.2:c.74G>C NP_001309013.1:p.Cys25Ser
NM_001322085.2:c.74G>C NP_001309014.1:p.Cys25Ser
NM_001322086.2:c.164G>C NP_001309015.1:p.Cys55Ser
NM_001362750.2:c.158G>C NP_001349679.1:p.Cys53Ser
NM_001161766.2:c.74G>C NP_001155238.1:p.Cys25Ser