Canonical Allele Identifier: CA400568477

Gene: ACE

Linked Data

• gnomAD v4: 17-63497177-C-A
• MyVariant Identifiers: chr17:g.61574538C>A (hg19) ; chr17:g.63497177C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497177C>A , CM000679.2:g.63497177C>A	GRCh38
NC_000017.10:g.61574538C>A , CM000679.1:g.61574538C>A	GRCh37
NC_000017.9:g.58928270C>A	NCBI36
NG_011648.1:g.25105C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3732C>A MANE Select	ENSP00000290866.4:p.Ser1244Arg
ENST00000290863.10:c.2010C>A	ENSP00000290863.6:p.Ser670Arg
ENST00000290866.9:c.3732C>A	ENSP00000290866.4:p.Ser1244Arg
ENST00000413513.7:c.1887C>A	ENSP00000392247.3:p.Ser629Arg
ENST00000428043.5:c.*154C>A	ENSP00000397593.2:n.*154C>A
ENST00000577647.2:c.1969+192C>A	ENSP00000464149.1:n.1969+192C>A
ENST00000578839.5:c.*1487C>A	ENSP00000462110.2:n.*1487C>A
ENST00000579314.5:c.*1461C>A	ENSP00000462599.1:n.*1461C>A
NM_000789.3:c.3732C>A	NP_000780.1:p.Ser1244Arg
NM_001178057.1:c.1887C>A	NP_001171528.1:p.Ser629Arg
NM_152830.2:c.2010C>A	NP_690043.1:p.Ser670Arg
XM_005257110.1:c.3183C>A	XP_005257167.1:p.Ser1061Arg
XM_006721737.2:c.2070C>A	XP_006721800.2:p.Ser690Arg
XM_006721737.3:c.2070C>A	XP_006721800.2:p.Ser690Arg
NM_000789.4:c.3732C>A MANE Select	NP_000780.1:p.Ser1244Arg
NM_001178057.2:c.1887C>A	NP_001171528.1:p.Ser629Arg
NM_152830.3:c.2010C>A	NP_690043.1:p.Ser670Arg
NM_001382700.1:c.3165C>A	NP_001369629.1:p.Ser1055Arg
NM_001382701.1:c.2880C>A	NP_001369630.1:p.Ser960Arg
NM_001382702.1:c.1347C>A	NP_001369631.1:p.Ser449Arg
NR_168483.1:n.2110C>A