Canonical Allele Identifier: CA9820933

Gene: AHCY

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34290858G>A , CM000682.2:g.34290858G>A	GRCh38
NC_000020.10:g.32878664G>A , CM000682.1:g.32878664G>A	GRCh37
NC_000020.9:g.32342325G>A	NCBI36
NG_012630.1:g.25945C>T
NG_012630.2:g.25945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.639C>T MANE Select	ENSP00000217426.2:p.Gly213=
ENST00000217426.6:c.639C>T	ENSP00000217426.2:p.Gly213=
ENST00000480653.5:n.686C>T
ENST00000538132.1:c.555C>T	ENSP00000442820.1:p.Gly185=
NM_000687.2:c.639C>T	NP_000678.1:p.Gly213=
NM_001161766.1:c.555C>T	NP_001155238.1:p.Gly185=
XM_005260316.3:c.555C>T	XP_005260373.1:p.Gly185=
XM_005260317.1:c.555C>T	XP_005260374.1:p.Gly185=
XM_011528656.1:c.555C>T	XP_011526958.1:p.Gly185=
XM_011528657.1:c.555C>T	XP_011526959.1:p.Gly185=
XM_011528658.1:c.555C>T	XP_011526960.1:p.Gly185=
XM_011528659.1:c.555C>T	XP_011526961.1:p.Gly185=
XM_011528660.1:c.555C>T	XP_011526962.1:p.Gly185=
NM_000687.3:c.639C>T	NP_000678.1:p.Gly213=
NM_001322084.1:c.555C>T	NP_001309013.1:p.Gly185=
NM_001322085.1:c.555C>T	NP_001309014.1:p.Gly185=
NM_001322086.1:c.645C>T	NP_001309015.1:p.Gly215=
NM_001362750.1:c.639C>T	NP_001349679.1:p.Gly213=
XM_005260317.2:c.555C>T	XP_005260374.1:p.Gly185=
XM_011528656.3:c.645C>T	XP_011526958.2:p.Gly215=
XM_011528657.2:c.645C>T	XP_011526959.2:p.Gly215=
XM_011528658.3:c.645C>T	XP_011526960.2:p.Gly215=
XM_017027709.2:c.639C>T	XP_016883198.1:p.Gly213=
XM_017027710.2:c.261C>T	XP_016883199.1:p.Gly87=
NM_000687.4:c.639C>T MANE Select	NP_000678.1:p.Gly213=
NM_001322084.2:c.555C>T	NP_001309013.1:p.Gly185=
NM_001322085.2:c.555C>T	NP_001309014.1:p.Gly185=
NM_001322086.2:c.645C>T	NP_001309015.1:p.Gly215=
NM_001362750.2:c.639C>T	NP_001349679.1:p.Gly213=
NM_001161766.2:c.555C>T	NP_001155238.1:p.Gly185=