Canonical Allele Identifier: CA9821139

Gene: AHCY

Linked Data

• ClinVar Variation Id: 2058211
• ClinVar RCV Id: RCV002928447
• dbSNP Id: rs774451358
• ExAC: 20:32883330 C / T
• gnomAD v2: 20-32883330-C-T
• gnomAD v3: 20-34295524-C-T
• gnomAD v4: 20-34295524-C-T
• MyVariant Identifiers: chr20:g.32883330C>T (hg19) ; chr20:g.34295524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34295524C>T , CM000682.2:g.34295524C>T	GRCh38
NC_000020.10:g.32883330C>T , CM000682.1:g.32883330C>T	GRCh37
NC_000020.9:g.32346991C>T	NCBI36
NG_012630.1:g.21279G>A
NG_012630.2:g.21279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.90G>A MANE Select	ENSP00000217426.2:p.Pro30=
ENST00000217426.6:c.90G>A	ENSP00000217426.2:p.Pro30=
ENST00000468908.1:n.253G>A
ENST00000473516.1:n.393G>A
ENST00000480653.5:n.137G>A
ENST00000538132.1:c.6G>A	ENSP00000442820.1:p.Pro2=
ENST00000606061.1:n.177G>A
NM_000687.2:c.90G>A	NP_000678.1:p.Pro30=
NM_001161766.1:c.6G>A	NP_001155238.1:p.Pro2=
XM_005260316.3:c.6G>A	XP_005260373.1:p.Pro2=
XM_005260317.1:c.6G>A	XP_005260374.1:p.Pro2=
XM_011528656.1:c.6G>A	XP_011526958.1:p.Pro2=
XM_011528657.1:c.6G>A	XP_011526959.1:p.Pro2=
XM_011528658.1:c.6G>A	XP_011526960.1:p.Pro2=
XM_011528659.1:c.6G>A	XP_011526961.1:p.Pro2=
XM_011528660.1:c.6G>A	XP_011526962.1:p.Pro2=
NM_000687.3:c.90G>A	NP_000678.1:p.Pro30=
NM_001322084.1:c.6G>A	NP_001309013.1:p.Pro2=
NM_001322085.1:c.6G>A	NP_001309014.1:p.Pro2=
NM_001322086.1:c.96G>A	NP_001309015.1:p.Pro32=
NM_001362750.1:c.90G>A	NP_001349679.1:p.Pro30=
XM_005260317.2:c.6G>A	XP_005260374.1:p.Pro2=
XM_011528656.3:c.96G>A	XP_011526958.2:p.Pro32=
XM_011528657.2:c.96G>A	XP_011526959.2:p.Pro32=
XM_011528658.3:c.96G>A	XP_011526960.2:p.Pro32=
XM_017027709.2:c.90G>A	XP_016883198.1:p.Pro30=
XM_017027710.2:c.-335G>A	XP_016883199.1:n.-335G>A
NM_000687.4:c.90G>A MANE Select	NP_000678.1:p.Pro30=
NM_001322084.2:c.6G>A	NP_001309013.1:p.Pro2=
NM_001322085.2:c.6G>A	NP_001309014.1:p.Pro2=
NM_001322086.2:c.96G>A	NP_001309015.1:p.Pro32=
NM_001362750.2:c.90G>A	NP_001349679.1:p.Pro30=
NM_001161766.2:c.6G>A	NP_001155238.1:p.Pro2=