Canonical Allele Identifier: CA400568532

Gene: ACE

Linked Data

• dbSNP Id: rs2030812434
• gnomAD v4: 17-63497185-G-A
• MyVariant Identifiers: chr17:g.61574546G>A (hg19) ; chr17:g.63497185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497185G>A , CM000679.2:g.63497185G>A	GRCh38
NC_000017.10:g.61574546G>A , CM000679.1:g.61574546G>A	GRCh37
NC_000017.9:g.58928278G>A	NCBI36
NG_011648.1:g.25113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3740G>A MANE Select	ENSP00000290866.4:p.Gly1247Asp
ENST00000290863.10:c.2018G>A	ENSP00000290863.6:p.Gly673Asp
ENST00000290866.9:c.3740G>A	ENSP00000290866.4:p.Gly1247Asp
ENST00000413513.7:c.1895G>A	ENSP00000392247.3:p.Gly632Asp
ENST00000428043.5:c.*162G>A	ENSP00000397593.2:n.*162G>A
ENST00000577647.2:c.1969+200G>A	ENSP00000464149.1:n.1969+200G>A
ENST00000578839.5:c.*1495G>A	ENSP00000462110.2:n.*1495G>A
ENST00000579314.5:c.*1469G>A	ENSP00000462599.1:n.*1469G>A
NM_000789.3:c.3740G>A	NP_000780.1:p.Gly1247Asp
NM_001178057.1:c.1895G>A	NP_001171528.1:p.Gly632Asp
NM_152830.2:c.2018G>A	NP_690043.1:p.Gly673Asp
XM_005257110.1:c.3191G>A	XP_005257167.1:p.Gly1064Asp
XM_006721737.2:c.2078G>A	XP_006721800.2:p.Gly693Asp
XM_006721737.3:c.2078G>A	XP_006721800.2:p.Gly693Asp
NM_000789.4:c.3740G>A MANE Select	NP_000780.1:p.Gly1247Asp
NM_001178057.2:c.1895G>A	NP_001171528.1:p.Gly632Asp
NM_152830.3:c.2018G>A	NP_690043.1:p.Gly673Asp
NM_001382700.1:c.3173G>A	NP_001369629.1:p.Gly1058Asp
NM_001382701.1:c.2888G>A	NP_001369630.1:p.Gly963Asp
NM_001382702.1:c.1355G>A	NP_001369631.1:p.Gly452Asp
NR_168483.1:n.2118G>A