Canonical Allele Identifier: CA408652218
Gene: AHCY HGNC NCBI

Linked Data

ClinVar Variation Id: 452110
ClinVar RCV Id: RCV000522952
dbSNP Id: rs1555830638

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34281060A>C , CM000682.2:g.34281060A>C GRCh38
NC_000020.10:g.32868866A>C , CM000682.1:g.32868866A>C GRCh37
NC_000020.9:g.32332527A>C NCBI36
NG_012630.1:g.35743T>G
NG_012630.2:g.35743T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000217426.7:c.1273T>G MANE Select ENSP00000217426.2:p.Phe425Val
ENST00000217426.6:c.1273T>G ENSP00000217426.2:p.Phe425Val
ENST00000480653.5:n.1421T>G
ENST00000538132.1:c.1189T>G ENSP00000442820.1:p.Phe397Val
NM_000687.2:c.1273T>G NP_000678.1:p.Phe425Val
NM_001161766.1:c.1189T>G NP_001155238.1:p.Phe397Val
XM_005260316.3:c.1189T>G XP_005260373.1:p.Phe397Val
XM_005260317.1:c.1189T>G XP_005260374.1:p.Phe397Val
XM_011528656.1:c.1189T>G XP_011526958.1:p.Phe397Val
XM_011528657.1:c.1189T>G XP_011526959.1:p.Phe397Val
XM_011528658.1:c.1189T>G XP_011526960.1:p.Phe397Val
XM_011528659.1:c.1189T>G XP_011526961.1:p.Phe397Val
XM_011528660.1:c.1189T>G XP_011526962.1:p.Phe397Val
NM_000687.3:c.1273T>G NP_000678.1:p.Phe425Val
NM_001322084.1:c.1189T>G NP_001309013.1:p.Phe397Val
NM_001322085.1:c.1189T>G NP_001309014.1:p.Phe397Val
NM_001322086.1:c.1279T>G NP_001309015.1:p.Phe427Val
NM_001362750.1:c.1273T>G NP_001349679.1:p.Phe425Val
XM_005260317.2:c.1189T>G XP_005260374.1:p.Phe397Val
XM_011528656.3:c.1279T>G XP_011526958.2:p.Phe427Val
XM_011528657.2:c.1279T>G XP_011526959.2:p.Phe427Val
XM_011528658.3:c.1279T>G XP_011526960.2:p.Phe427Val
XM_017027709.2:c.1273T>G XP_016883198.1:p.Phe425Val
XM_017027710.2:c.895T>G XP_016883199.1:p.Phe299Val
NM_000687.4:c.1273T>G MANE Select NP_000678.1:p.Phe425Val
NM_001322084.2:c.1189T>G NP_001309013.1:p.Phe397Val
NM_001322085.2:c.1189T>G NP_001309014.1:p.Phe397Val
NM_001322086.2:c.1279T>G NP_001309015.1:p.Phe427Val
NM_001362750.2:c.1273T>G NP_001349679.1:p.Phe425Val
NM_001161766.2:c.1189T>G NP_001155238.1:p.Phe397Val