Canonical Allele Identifier: CA2361139814
Gene: AHCY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34295410G= , CM000682.2:g.34295410G= GRCh38
NC_000020.10:g.32883216G= , CM000682.1:g.32883216G= GRCh37
NC_000020.9:g.32346877G= NCBI36
NG_012630.1:g.21393C=
NG_012630.2:g.21393C=

Transcript Alleles

HGVS Amino-acid change
ENST00000217426.7:c.204C= MANE Select ENSP00000217426.2:p.Val68=
ENST00000217426.6:c.204C= ENSP00000217426.2:p.Val68=
ENST00000468908.1:n.367C=
ENST00000480653.5:n.251C=
ENST00000538132.1:c.120C= ENSP00000442820.1:p.Val40=
ENST00000606061.1:n.291C=
NM_000687.2:c.204C= NP_000678.1:p.Val68=
NM_001161766.1:c.120C= NP_001155238.1:p.Val40=
XM_005260316.3:c.120C= XP_005260373.1:p.Val40=
XM_005260317.1:c.120C= XP_005260374.1:p.Val40=
XM_011528656.1:c.120C= XP_011526958.1:p.Val40=
XM_011528657.1:c.120C= XP_011526959.1:p.Val40=
XM_011528658.1:c.120C= XP_011526960.1:p.Val40=
XM_011528659.1:c.120C= XP_011526961.1:p.Val40=
XM_011528660.1:c.120C= XP_011526962.1:p.Val40=
NM_000687.3:c.204C= NP_000678.1:p.Val68=
NM_001322084.1:c.120C= NP_001309013.1:p.Val40=
NM_001322085.1:c.120C= NP_001309014.1:p.Val40=
NM_001322086.1:c.210C= NP_001309015.1:p.Val70=
NM_001362750.1:c.204C= NP_001349679.1:p.Val68=
XM_005260317.2:c.120C= XP_005260374.1:p.Val40=
XM_011528656.3:c.210C= XP_011526958.2:p.Val70=
XM_011528657.2:c.210C= XP_011526959.2:p.Val70=
XM_011528658.3:c.210C= XP_011526960.2:p.Val70=
XM_017027709.2:c.204C= XP_016883198.1:p.Val68=
XM_017027710.2:c.-221C= XP_016883199.1:n.-221C=
NM_000687.4:c.204C= MANE Select NP_000678.1:p.Val68=
NM_001322084.2:c.120C= NP_001309013.1:p.Val40=
NM_001322085.2:c.120C= NP_001309014.1:p.Val40=
NM_001322086.2:c.210C= NP_001309015.1:p.Val70=
NM_001362750.2:c.204C= NP_001349679.1:p.Val68=
NM_001161766.2:c.120C= NP_001155238.1:p.Val40=