Canonical Allele Identifier: CA9821102

Gene: AHCY

Linked Data

• dbSNP Id: rs758549306
• ExAC: 20:32883148 G / C
• gnomAD v2: 20-32883148-G-C
• gnomAD v4: 20-34295342-G-C
• MyVariant Identifiers: chr20:g.32883148G>C (hg19) ; chr20:g.34295342G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34295342G>C , CM000682.2:g.34295342G>C	GRCh38
NC_000020.10:g.32883148G>C , CM000682.1:g.32883148G>C	GRCh37
NC_000020.9:g.32346809G>C	NCBI36
NG_012630.1:g.21461C>G
NG_012630.2:g.21461C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000217426.7:c.219+53C>G MANE Select	ENSP00000217426.2:n.219+53C>G
ENST00000217426.6:c.219+53C>G	ENSP00000217426.2:n.219+53C>G
ENST00000468908.1:n.382+53C>G
ENST00000480653.5:n.266+53C>G
ENST00000538132.1:c.135+53C>G	ENSP00000442820.1:n.135+53C>G
ENST00000606061.1:n.359C>G
NM_000687.2:c.219+53C>G	NP_000678.1:n.219+53C>G
NM_001161766.1:c.135+53C>G	NP_001155238.1:n.135+53C>G
XM_005260316.3:c.135+53C>G	XP_005260373.1:n.135+53C>G
XM_005260317.1:c.135+53C>G	XP_005260374.1:n.135+53C>G
XM_011528656.1:c.135+53C>G	XP_011526958.1:n.135+53C>G
XM_011528657.1:c.135+53C>G	XP_011526959.1:n.135+53C>G
XM_011528658.1:c.135+53C>G	XP_011526960.1:n.135+53C>G
XM_011528659.1:c.135+53C>G	XP_011526961.1:n.135+53C>G
XM_011528660.1:c.135+53C>G	XP_011526962.1:n.135+53C>G
NM_000687.3:c.219+53C>G	NP_000678.1:n.219+53C>G
NM_001322084.1:c.135+53C>G	NP_001309013.1:n.135+53C>G
NM_001322085.1:c.135+53C>G	NP_001309014.1:n.135+53C>G
NM_001322086.1:c.225+53C>G	NP_001309015.1:n.225+53C>G
NM_001362750.1:c.219+53C>G	NP_001349679.1:n.219+53C>G
XM_005260317.2:c.135+53C>G	XP_005260374.1:n.135+53C>G
XM_011528656.3:c.225+53C>G	XP_011526958.2:n.225+53C>G
XM_011528657.2:c.225+53C>G	XP_011526959.2:n.225+53C>G
XM_011528658.3:c.225+53C>G	XP_011526960.2:n.225+53C>G
XM_017027709.2:c.219+53C>G	XP_016883198.1:n.219+53C>G
XM_017027710.2:c.-206+53C>G	XP_016883199.1:n.-206+53C>G
NM_000687.4:c.219+53C>G MANE Select	NP_000678.1:n.219+53C>G
NM_001322084.2:c.135+53C>G	NP_001309013.1:n.135+53C>G
NM_001322085.2:c.135+53C>G	NP_001309014.1:n.135+53C>G
NM_001322086.2:c.225+53C>G	NP_001309015.1:n.225+53C>G
NM_001362750.2:c.219+53C>G	NP_001349679.1:n.219+53C>G
NM_001161766.2:c.135+53C>G	NP_001155238.1:n.135+53C>G