Canonical Allele Identifier: CA2361139816
Gene: AHCY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34295412C= , CM000682.2:g.34295412C= GRCh38
NC_000020.10:g.32883218C= , CM000682.1:g.32883218C= GRCh37
NC_000020.9:g.32346879C= NCBI36
NG_012630.1:g.21391G=
NG_012630.2:g.21391G=

Transcript Alleles

HGVS Amino-acid change
ENST00000217426.7:c.202G= MANE Select ENSP00000217426.2:p.Val68=
ENST00000217426.6:c.202G= ENSP00000217426.2:p.Val68=
ENST00000468908.1:n.365G=
ENST00000480653.5:n.249G=
ENST00000538132.1:c.118G= ENSP00000442820.1:p.Val40=
ENST00000606061.1:n.289G=
NM_000687.2:c.202G= NP_000678.1:p.Val68=
NM_001161766.1:c.118G= NP_001155238.1:p.Val40=
XM_005260316.3:c.118G= XP_005260373.1:p.Val40=
XM_005260317.1:c.118G= XP_005260374.1:p.Val40=
XM_011528656.1:c.118G= XP_011526958.1:p.Val40=
XM_011528657.1:c.118G= XP_011526959.1:p.Val40=
XM_011528658.1:c.118G= XP_011526960.1:p.Val40=
XM_011528659.1:c.118G= XP_011526961.1:p.Val40=
XM_011528660.1:c.118G= XP_011526962.1:p.Val40=
NM_000687.3:c.202G= NP_000678.1:p.Val68=
NM_001322084.1:c.118G= NP_001309013.1:p.Val40=
NM_001322085.1:c.118G= NP_001309014.1:p.Val40=
NM_001322086.1:c.208G= NP_001309015.1:p.Val70=
NM_001362750.1:c.202G= NP_001349679.1:p.Val68=
XM_005260317.2:c.118G= XP_005260374.1:p.Val40=
XM_011528656.3:c.208G= XP_011526958.2:p.Val70=
XM_011528657.2:c.208G= XP_011526959.2:p.Val70=
XM_011528658.3:c.208G= XP_011526960.2:p.Val70=
XM_017027709.2:c.202G= XP_016883198.1:p.Val68=
XM_017027710.2:c.-223G= XP_016883199.1:n.-223G=
NM_000687.4:c.202G= MANE Select NP_000678.1:p.Val68=
NM_001322084.2:c.118G= NP_001309013.1:p.Val40=
NM_001322085.2:c.118G= NP_001309014.1:p.Val40=
NM_001322086.2:c.208G= NP_001309015.1:p.Val70=
NM_001362750.2:c.202G= NP_001349679.1:p.Val68=
NM_001161766.2:c.118G= NP_001155238.1:p.Val40=