Canonical Allele Identifier: CA501342441

Gene: ACE

Linked Data

• dbSNP Id: rs1220775181
• gnomAD v2: 17-61574664-C-A
• gnomAD v4: 17-63497303-C-A
• MyVariant Identifiers: chr17:g.61574664C>A (hg19) ; chr17:g.63497303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497303C>A , CM000679.2:g.63497303C>A	GRCh38
NC_000017.10:g.61574664C>A , CM000679.1:g.61574664C>A	GRCh37
NC_000017.9:g.58928396C>A	NCBI36
NG_011648.1:g.25231C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3858C>A MANE Select	ENSP00000290866.4:p.Arg1286=
ENST00000290863.10:c.2136C>A	ENSP00000290863.6:p.Arg712=
ENST00000290866.9:c.3858C>A	ENSP00000290866.4:p.Arg1286=
ENST00000413513.7:c.2013C>A	ENSP00000392247.3:p.Arg671=
ENST00000428043.5:c.*280C>A	ENSP00000397593.2:n.*280C>A
ENST00000577647.2:c.1969+318C>A	ENSP00000464149.1:n.1969+318C>A
ENST00000578839.5:c.*1613C>A	ENSP00000462110.2:n.*1613C>A
ENST00000579314.5:c.*1587C>A	ENSP00000462599.1:n.*1587C>A
NM_000789.3:c.3858C>A	NP_000780.1:p.Arg1286=
NM_001178057.1:c.2013C>A	NP_001171528.1:p.Arg671=
NM_152830.2:c.2136C>A	NP_690043.1:p.Arg712=
XM_005257110.1:c.3309C>A	XP_005257167.1:p.Arg1103=
XM_006721737.2:c.2196C>A	XP_006721800.2:p.Arg732=
XM_006721737.3:c.2196C>A	XP_006721800.2:p.Arg732=
NM_000789.4:c.3858C>A MANE Select	NP_000780.1:p.Arg1286=
NM_001178057.2:c.2013C>A	NP_001171528.1:p.Arg671=
NM_152830.3:c.2136C>A	NP_690043.1:p.Arg712=
NM_001382700.1:c.3291C>A	NP_001369629.1:p.Arg1097=
NM_001382701.1:c.3006C>A	NP_001369630.1:p.Arg1002=
NM_001382702.1:c.1473C>A	NP_001369631.1:p.Arg491=
NR_168483.1:n.2236C>A