Canonical Allele Identifier: CA400568524

Gene: ACE

Linked Data

• COSMIC: COSM5741087 ; COSM5741088
• MyVariant Identifiers: chr17:g.61574545G>A (hg19) ; chr17:g.63497184G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497184G>A , CM000679.2:g.63497184G>A	GRCh38
NC_000017.10:g.61574545G>A , CM000679.1:g.61574545G>A	GRCh37
NC_000017.9:g.58928277G>A	NCBI36
NG_011648.1:g.25112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3739G>A MANE Select	ENSP00000290866.4:p.Gly1247Ser
ENST00000290863.10:c.2017G>A	ENSP00000290863.6:p.Gly673Ser
ENST00000290866.9:c.3739G>A	ENSP00000290866.4:p.Gly1247Ser
ENST00000413513.7:c.1894G>A	ENSP00000392247.3:p.Gly632Ser
ENST00000428043.5:c.*161G>A	ENSP00000397593.2:n.*161G>A
ENST00000577647.2:c.1969+199G>A	ENSP00000464149.1:n.1969+199G>A
ENST00000578839.5:c.*1494G>A	ENSP00000462110.2:n.*1494G>A
ENST00000579314.5:c.*1468G>A	ENSP00000462599.1:n.*1468G>A
NM_000789.3:c.3739G>A	NP_000780.1:p.Gly1247Ser
NM_001178057.1:c.1894G>A	NP_001171528.1:p.Gly632Ser
NM_152830.2:c.2017G>A	NP_690043.1:p.Gly673Ser
XM_005257110.1:c.3190G>A	XP_005257167.1:p.Gly1064Ser
XM_006721737.2:c.2077G>A	XP_006721800.2:p.Gly693Ser
XM_006721737.3:c.2077G>A	XP_006721800.2:p.Gly693Ser
NM_000789.4:c.3739G>A MANE Select	NP_000780.1:p.Gly1247Ser
NM_001178057.2:c.1894G>A	NP_001171528.1:p.Gly632Ser
NM_152830.3:c.2017G>A	NP_690043.1:p.Gly673Ser
NM_001382700.1:c.3172G>A	NP_001369629.1:p.Gly1058Ser
NM_001382701.1:c.2887G>A	NP_001369630.1:p.Gly963Ser
NM_001382702.1:c.1354G>A	NP_001369631.1:p.Gly452Ser
NR_168483.1:n.2117G>A