Canonical Allele Identifier: CA635287629

Gene: AHCY

Linked Data

• dbSNP Id: rs1197335751
• gnomAD v2: 20-32889529-T-C
• gnomAD v3: 20-34301723-T-C
• gnomAD v4: 20-34301723-T-C
• MyVariant Identifiers: chr20:g.32889529T>C (hg19) ; chr20:g.34301723T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34301723T>C , CM000682.2:g.34301723T>C	GRCh38
NC_000020.10:g.32889529T>C , CM000682.1:g.32889529T>C	GRCh37
NC_000020.9:g.32353190T>C	NCBI36
NG_012630.1:g.15080A>G
NG_012630.2:g.15080A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000217426.7:c.28+1520A>G MANE Select	ENSP00000217426.2:n.28+1520A>G
ENST00000217426.6:c.28+1520A>G	ENSP00000217426.2:n.28+1520A>G
ENST00000468908.1:n.191+35A>G
ENST00000473516.1:n.331+622A>G
ENST00000480653.5:n.75+1520A>G
ENST00000538132.1:c.-56-6138A>G	ENSP00000442820.1:n.-56-6138A>G
ENST00000606061.1:n.115+1520A>G
NM_000687.2:c.28+1520A>G	NP_000678.1:n.28+1520A>G
NM_001161766.1:c.-56-6138A>G	NP_001155238.1:n.-56-6138A>G
XM_005260316.3:c.-57+35A>G	XP_005260373.1:n.-57+35A>G
XM_005260317.1:c.-57+893A>G	XP_005260374.1:n.-57+893A>G
XM_011528659.1:c.-56-6138A>G	XP_011526961.1:n.-56-6138A>G
XM_011528660.1:c.-57+213A>G	XP_011526962.1:n.-57+213A>G
NM_000687.3:c.28+1520A>G	NP_000678.1:n.28+1520A>G
NM_001322084.1:c.-57+35A>G	NP_001309013.1:n.-57+35A>G
NM_001322085.1:c.-57+213A>G	NP_001309014.1:n.-57+213A>G
NM_001322086.1:c.34+24A>G	NP_001309015.1:n.34+24A>G
NM_001362750.1:c.28+1520A>G	NP_001349679.1:n.28+1520A>G
XM_005260317.2:c.-57+893A>G	XP_005260374.1:n.-57+893A>G
XM_011528656.3:c.34+24A>G	XP_011526958.2:n.34+24A>G
XM_011528657.2:c.34+24A>G	XP_011526959.2:n.34+24A>G
XM_011528658.3:c.34+24A>G	XP_011526960.2:n.34+24A>G
XM_017027709.2:c.28+1520A>G	XP_016883198.1:n.28+1520A>G
XM_017027710.2:c.-397+1520A>G	XP_016883199.1:n.-397+1520A>G
NM_000687.4:c.28+1520A>G MANE Select	NP_000678.1:n.28+1520A>G
NM_001322084.2:c.-57+35A>G	NP_001309013.1:n.-57+35A>G
NM_001322085.2:c.-57+213A>G	NP_001309014.1:n.-57+213A>G
NM_001322086.2:c.34+24A>G	NP_001309015.1:n.34+24A>G
NM_001362750.2:c.28+1520A>G	NP_001349679.1:n.28+1520A>G
NM_001161766.2:c.-56-6138A>G	NP_001155238.1:n.-56-6138A>G