Canonical Allele Identifier: CA9821058
Gene: AHCY HGNC NCBI

Linked Data

dbSNP Id: rs570467069

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34294082C>A , CM000682.2:g.34294082C>A GRCh38
NC_000020.10:g.32881888C>A , CM000682.1:g.32881888C>A GRCh37
NC_000020.9:g.32345549C>A NCBI36
NG_012630.1:g.22721G>T
NG_012630.2:g.22721G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000217426.7:c.294G>T MANE Select ENSP00000217426.2:p.Pro98=
ENST00000217426.6:c.294G>T ENSP00000217426.2:p.Pro98=
ENST00000468908.1:n.457G>T
ENST00000480653.5:n.341G>T
ENST00000538132.1:c.210G>T ENSP00000442820.1:p.Pro70=
ENST00000606061.1:n.554G>T
NM_000687.2:c.294G>T NP_000678.1:p.Pro98=
NM_001161766.1:c.210G>T NP_001155238.1:p.Pro70=
XM_005260316.3:c.210G>T XP_005260373.1:p.Pro70=
XM_005260317.1:c.210G>T XP_005260374.1:p.Pro70=
XM_011528656.1:c.210G>T XP_011526958.1:p.Pro70=
XM_011528657.1:c.210G>T XP_011526959.1:p.Pro70=
XM_011528658.1:c.210G>T XP_011526960.1:p.Pro70=
XM_011528659.1:c.210G>T XP_011526961.1:p.Pro70=
XM_011528660.1:c.210G>T XP_011526962.1:p.Pro70=
NM_000687.3:c.294G>T NP_000678.1:p.Pro98=
NM_001322084.1:c.210G>T NP_001309013.1:p.Pro70=
NM_001322085.1:c.210G>T NP_001309014.1:p.Pro70=
NM_001322086.1:c.300G>T NP_001309015.1:p.Pro100=
NM_001362750.1:c.294G>T NP_001349679.1:p.Pro98=
XM_005260317.2:c.210G>T XP_005260374.1:p.Pro70=
XM_011528656.3:c.300G>T XP_011526958.2:p.Pro100=
XM_011528657.2:c.300G>T XP_011526959.2:p.Pro100=
XM_011528658.3:c.300G>T XP_011526960.2:p.Pro100=
XM_017027709.2:c.294G>T XP_016883198.1:p.Pro98=
XM_017027710.2:c.-131G>T XP_016883199.1:n.-131G>T
NM_000687.4:c.294G>T MANE Select NP_000678.1:p.Pro98=
NM_001322084.2:c.210G>T NP_001309013.1:p.Pro70=
NM_001322085.2:c.210G>T NP_001309014.1:p.Pro70=
NM_001322086.2:c.300G>T NP_001309015.1:p.Pro100=
NM_001362750.2:c.294G>T NP_001349679.1:p.Pro98=
NM_001161766.2:c.210G>T NP_001155238.1:p.Pro70=