Canonical Allele Identifier: CA122803
Gene: AHCY HGNC NCBI

Linked Data

ClinVar Variation Id: 12952
ClinVar RCV Id: RCV000013818
dbSNP Id: rs121918607

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34292467C>T , CM000682.2:g.34292467C>T GRCh38
NC_000020.10:g.32880273C>T , CM000682.1:g.32880273C>T GRCh37
NC_000020.9:g.32343934C>T NCBI36
NG_012630.1:g.24336G>A
NG_012630.2:g.24336G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000217426.7:c.336G>A MANE Select ENSP00000217426.2:p.Trp112Ter
ENST00000217426.6:c.336G>A ENSP00000217426.2:p.Trp112Ter
ENST00000468908.1:n.499G>A
ENST00000480653.5:n.383G>A
ENST00000538132.1:c.252G>A ENSP00000442820.1:p.Trp84Ter
NM_000687.2:c.336G>A NP_000678.1:p.Trp112Ter
NM_001161766.1:c.252G>A NP_001155238.1:p.Trp84Ter
XM_005260316.3:c.252G>A XP_005260373.1:p.Trp84Ter
XM_005260317.1:c.252G>A XP_005260374.1:p.Trp84Ter
XM_011528656.1:c.252G>A XP_011526958.1:p.Trp84Ter
XM_011528657.1:c.252G>A XP_011526959.1:p.Trp84Ter
XM_011528658.1:c.252G>A XP_011526960.1:p.Trp84Ter
XM_011528659.1:c.252G>A XP_011526961.1:p.Trp84Ter
XM_011528660.1:c.252G>A XP_011526962.1:p.Trp84Ter
NM_000687.3:c.336G>A NP_000678.1:p.Trp112Ter
NM_001322084.1:c.252G>A NP_001309013.1:p.Trp84Ter
NM_001322085.1:c.252G>A NP_001309014.1:p.Trp84Ter
NM_001322086.1:c.342G>A NP_001309015.1:p.Trp114Ter
NM_001362750.1:c.336G>A NP_001349679.1:p.Trp112Ter
XM_005260317.2:c.252G>A XP_005260374.1:p.Trp84Ter
XM_011528656.3:c.342G>A XP_011526958.2:p.Trp114Ter
XM_011528657.2:c.342G>A XP_011526959.2:p.Trp114Ter
XM_011528658.3:c.342G>A XP_011526960.2:p.Trp114Ter
XM_017027709.2:c.336G>A XP_016883198.1:p.Trp112Ter
XM_017027710.2:c.-43G>A XP_016883199.1:n.-43G>A
NM_000687.4:c.336G>A MANE Select NP_000678.1:p.Trp112Ter
NM_001322084.2:c.252G>A NP_001309013.1:p.Trp84Ter
NM_001322085.2:c.252G>A NP_001309014.1:p.Trp84Ter
NM_001322086.2:c.342G>A NP_001309015.1:p.Trp114Ter
NM_001362750.2:c.336G>A NP_001349679.1:p.Trp112Ter
NM_001161766.2:c.252G>A NP_001155238.1:p.Trp84Ter