Canonical Allele Identifier: CA8699131

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63479796G>A , CM000679.2:g.63479796G>A	GRCh38
NC_000017.10:g.61557157G>A , CM000679.1:g.61557157G>A	GRCh37
NC_000017.9:g.58910889G>A	NCBI36
NG_011648.1:g.7724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.539G>A MANE Select	ENSP00000290866.4:p.Arg180Gln
ENST00000290866.9:c.539G>A	ENSP00000290866.4:p.Arg180Gln
ENST00000428043.5:c.539G>A	ENSP00000397593.2:p.Arg180Gln
ENST00000580318.1:n.728G>A
ENST00000582627.1:c.539G>A	ENSP00000462280.1:p.Arg180Gln
ENST00000582678.5:c.445G>A	ENSP00000462995.1:p.Glu149Lys
ENST00000584529.5:n.573G>A
NM_000789.3:c.539G>A	NP_000780.1:p.Arg180Gln
XM_005257110.1:c.-11G>A	XP_005257167.1:n.-11G>A
NM_000789.4:c.539G>A MANE Select	NP_000780.1:p.Arg180Gln
NM_001382700.1:c.183-541G>A	NP_001369629.1:n.183-541G>A
NM_001382701.1:c.-197-541G>A	NP_001369630.1:n.-197-541G>A