Canonical Allele Identifier: CA8700681

Gene: ACE

Linked Data

• ClinVar Variation Id: 1605315
• ClinVar RCV Id: RCV002160010
• dbSNP Id: rs12720745
• ExAC: 17:61574675 G / A
• gnomAD v2: 17-61574675-G-A
• gnomAD v3: 17-63497314-G-A
• gnomAD v4: 17-63497314-G-A
• MyVariant Identifiers: chr17:g.61574675G>A (hg19) ; chr17:g.63497314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497314G>A , CM000679.2:g.63497314G>A	GRCh38
NC_000017.10:g.61574675G>A , CM000679.1:g.61574675G>A	GRCh37
NC_000017.9:g.58928407G>A	NCBI36
NG_011648.1:g.25242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3869G>A MANE Select	ENSP00000290866.4:p.Arg1290Gln
ENST00000290863.10:c.2147G>A	ENSP00000290863.6:p.Arg716Gln
ENST00000290866.9:c.3869G>A	ENSP00000290866.4:p.Arg1290Gln
ENST00000413513.7:c.2024G>A	ENSP00000392247.3:p.Arg675Gln
ENST00000428043.5:c.*291G>A	ENSP00000397593.2:n.*291G>A
ENST00000577647.2:c.1969+329G>A	ENSP00000464149.1:n.1969+329G>A
ENST00000578839.5:c.*1624G>A	ENSP00000462110.2:n.*1624G>A
ENST00000579314.5:c.*1598G>A	ENSP00000462599.1:n.*1598G>A
NM_000789.3:c.3869G>A	NP_000780.1:p.Arg1290Gln
NM_001178057.1:c.2024G>A	NP_001171528.1:p.Arg675Gln
NM_152830.2:c.2147G>A	NP_690043.1:p.Arg716Gln
XM_005257110.1:c.3320G>A	XP_005257167.1:p.Arg1107Gln
XM_006721737.2:c.2207G>A	XP_006721800.2:p.Arg736Gln
XM_006721737.3:c.2207G>A	XP_006721800.2:p.Arg736Gln
NM_000789.4:c.3869G>A MANE Select	NP_000780.1:p.Arg1290Gln
NM_001178057.2:c.2024G>A	NP_001171528.1:p.Arg675Gln
NM_152830.3:c.2147G>A	NP_690043.1:p.Arg716Gln
NM_001382700.1:c.3302G>A	NP_001369629.1:p.Arg1101Gln
NM_001382701.1:c.3017G>A	NP_001369630.1:p.Arg1006Gln
NM_001382702.1:c.1484G>A	NP_001369631.1:p.Arg495Gln
NR_168483.1:n.2247G>A