Canonical Allele Identifier: CA8700326

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63493455G>A , CM000679.2:g.63493455G>A	GRCh38
NC_000017.10:g.61570816G>A , CM000679.1:g.61570816G>A	GRCh37
NC_000017.9:g.58924548G>A	NCBI36
NG_011648.1:g.21383G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.2932G>A MANE Select	NP_000780.1:p.Val978Met
ENST00000290866.10:c.2932G>A MANE Select	ENSP00000290866.4:p.Val978Met
NM_000789.3:c.2932G>A	NP_000780.1:p.Val978Met
NM_001178057.1:c.1210G>A	NP_001171528.1:p.Val404Met
NM_001178057.2:c.1210G>A	NP_001171528.1:p.Val404Met
NM_001382700.1:c.2365G>A	NP_001369629.1:p.Val789Met
NM_001382701.1:c.2080G>A	NP_001369630.1:p.Val694Met
NM_001382702.1:c.670G>A	NP_001369631.1:p.Val224Met
NM_152830.2:c.1210G>A	NP_690043.1:p.Val404Met
NM_152830.3:c.1210G>A	NP_690043.1:p.Val404Met
NR_168483.1:n.1310G>A
ENST00000290863.10:c.1210G>A	ENSP00000290863.6:p.Val404Met
ENST00000290866.9:c.2932G>A	ENSP00000290866.4:p.Val978Met
ENST00000413513.7:c.1210G>A	ENSP00000392247.3:p.Val404Met
ENST00000428043.5:c.2932G>A	ENSP00000397593.2:p.Val978Met
ENST00000577418.5:n.147-467G>A
ENST00000577647.2:c.1210G>A	ENSP00000464149.1:p.Val404Met
ENST00000578839.5:c.*810G>A	ENSP00000462110.2:n.*810G>A
ENST00000579314.5:c.*661G>A	ENSP00000462599.1:n.*661G>A
ENST00000582761.1:c.668-467G>A	ENSP00000462909.1:n.668-467G>A
ENST00000584865.5:n.878G>A
XM_005257110.1:c.2383G>A	XP_005257167.1:p.Val795Met
XM_006721737.2:c.1270G>A	XP_006721800.2:p.Val424Met
XM_006721737.3:c.1270G>A	XP_006721800.2:p.Val424Met