Canonical Allele Identifier: CA408660748

Gene: AHCY

Linked Data

• gnomAD v4: 20-34295395-C-A
• MyVariant Identifiers: chr20:g.32883201C>A (hg19) ; chr20:g.34295395C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34295395C>A , CM000682.2:g.34295395C>A	GRCh38
NC_000020.10:g.32883201C>A , CM000682.1:g.32883201C>A	GRCh37
NC_000020.9:g.32346862C>A	NCBI36
NG_012630.1:g.21408G>T
NG_012630.2:g.21408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.219G>T MANE Select	ENSP00000217426.2:p.Glu73Asp
ENST00000217426.6:c.219G>T	ENSP00000217426.2:p.Glu73Asp
ENST00000468908.1:n.382G>T
ENST00000480653.5:n.266G>T
ENST00000538132.1:c.135G>T	ENSP00000442820.1:p.Glu45Asp
ENST00000606061.1:n.306G>T
NM_000687.2:c.219G>T	NP_000678.1:p.Glu73Asp
NM_001161766.1:c.135G>T	NP_001155238.1:p.Glu45Asp
XM_005260316.3:c.135G>T	XP_005260373.1:p.Glu45Asp
XM_005260317.1:c.135G>T	XP_005260374.1:p.Glu45Asp
XM_011528656.1:c.135G>T	XP_011526958.1:p.Glu45Asp
XM_011528657.1:c.135G>T	XP_011526959.1:p.Glu45Asp
XM_011528658.1:c.135G>T	XP_011526960.1:p.Glu45Asp
XM_011528659.1:c.135G>T	XP_011526961.1:p.Glu45Asp
XM_011528660.1:c.135G>T	XP_011526962.1:p.Glu45Asp
NM_000687.3:c.219G>T	NP_000678.1:p.Glu73Asp
NM_001322084.1:c.135G>T	NP_001309013.1:p.Glu45Asp
NM_001322085.1:c.135G>T	NP_001309014.1:p.Glu45Asp
NM_001322086.1:c.225G>T	NP_001309015.1:p.Glu75Asp
NM_001362750.1:c.219G>T	NP_001349679.1:p.Glu73Asp
XM_005260317.2:c.135G>T	XP_005260374.1:p.Glu45Asp
XM_011528656.3:c.225G>T	XP_011526958.2:p.Glu75Asp
XM_011528657.2:c.225G>T	XP_011526959.2:p.Glu75Asp
XM_011528658.3:c.225G>T	XP_011526960.2:p.Glu75Asp
XM_017027709.2:c.219G>T	XP_016883198.1:p.Glu73Asp
XM_017027710.2:c.-206G>T	XP_016883199.1:n.-206G>T
NM_000687.4:c.219G>T MANE Select	NP_000678.1:p.Glu73Asp
NM_001322084.2:c.135G>T	NP_001309013.1:p.Glu45Asp
NM_001322085.2:c.135G>T	NP_001309014.1:p.Glu45Asp
NM_001322086.2:c.225G>T	NP_001309015.1:p.Glu75Asp
NM_001362750.2:c.219G>T	NP_001349679.1:p.Glu73Asp
NM_001161766.2:c.135G>T	NP_001155238.1:p.Glu45Asp