Canonical Allele Identifier: CA313342146

Gene: AHCY

Linked Data

• dbSNP Id: rs141246532
• gnomAD v2: 20-32868088-A-G
• gnomAD v3: 20-34280282-A-G
• gnomAD v4: 20-34280282-A-G
• MyVariant Identifiers: chr20:g.32868088A>G (hg19) ; chr20:g.34280282A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34280282A>G , CM000682.2:g.34280282A>G	GRCh38
NC_000020.10:g.32868088A>G , CM000682.1:g.32868088A>G	GRCh37
NC_000020.9:g.32331749A>G	NCBI36
NG_012630.1:g.36521T>C
NG_012630.2:g.36521T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.*752T>C MANE Select	ENSP00000217426.2:n.*752T>C
ENST00000217426.6:c.*752T>C	ENSP00000217426.2:n.*752T>C
ENST00000480653.5:n.2199T>C
ENST00000538132.1:c.*752T>C	ENSP00000442820.1:n.*752T>C
NM_000687.2:c.*752T>C	NP_000678.1:n.*752T>C
NM_001161766.1:c.*752T>C	NP_001155238.1:n.*752T>C
XM_005260316.3:c.*752T>C	XP_005260373.1:n.*752T>C
XM_005260317.1:c.*752T>C	XP_005260374.1:n.*752T>C
XM_011528656.1:c.*376T>C	XP_011526958.1:n.*376T>C
XM_011528657.1:c.*7+745T>C	XP_011526959.1:n.*7+745T>C
XM_011528658.1:c.*7+745T>C	XP_011526960.1:n.*7+745T>C
XM_011528659.1:c.*752T>C	XP_011526961.1:n.*752T>C
XM_011528660.1:c.*752T>C	XP_011526962.1:n.*752T>C
NM_000687.3:c.*752T>C	NP_000678.1:n.*752T>C
NM_001322084.1:c.*752T>C	NP_001309013.1:n.*752T>C
NM_001322085.1:c.*752T>C	NP_001309014.1:n.*752T>C
NM_001322086.1:c.*752T>C	NP_001309015.1:n.*752T>C
NM_001362750.1:c.*376T>C	NP_001349679.1:n.*376T>C
XM_005260317.2:c.*752T>C	XP_005260374.1:n.*752T>C
XM_011528656.3:c.*376T>C	XP_011526958.2:n.*376T>C
XM_011528657.2:c.*7+745T>C	XP_011526959.2:n.*7+745T>C
XM_011528658.3:c.*7+745T>C	XP_011526960.2:n.*7+745T>C
XM_017027709.2:c.*7+745T>C	XP_016883198.1:n.*7+745T>C
XM_017027710.2:c.*752T>C	XP_016883199.1:n.*752T>C
NM_000687.4:c.*752T>C MANE Select	NP_000678.1:n.*752T>C
NM_001322084.2:c.*752T>C	NP_001309013.1:n.*752T>C
NM_001322085.2:c.*752T>C	NP_001309014.1:n.*752T>C
NM_001322086.2:c.*752T>C	NP_001309015.1:n.*752T>C
NM_001362750.2:c.*376T>C	NP_001349679.1:n.*376T>C
NM_001161766.2:c.*752T>C	NP_001155238.1:n.*752T>C