Canonical Allele Identifier: CA8699543

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483145C>T , CM000679.2:g.63483145C>T	GRCh38
NC_000017.10:g.61560506C>T , CM000679.1:g.61560506C>T	GRCh37
NC_000017.9:g.58914238C>T	NCBI36
NG_011648.1:g.11073C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.1459C>T MANE Select	NP_000780.1:p.Arg487Cys
ENST00000290866.10:c.1459C>T MANE Select	ENSP00000290866.4:p.Arg487Cys
NM_000789.3:c.1459C>T	NP_000780.1:p.Arg487Cys
NM_001382700.1:c.892C>T	NP_001369629.1:p.Arg298Cys
NM_001382701.1:c.607C>T	NP_001369630.1:p.Arg203Cys
ENST00000290866.9:c.1459C>T	ENSP00000290866.4:p.Arg487Cys
ENST00000428043.5:c.1459C>T	ENSP00000397593.2:p.Arg487Cys
ENST00000582678.5:c.*858C>T	ENSP00000462995.1:n.*858C>T
ENST00000584529.5:n.1377-315C>T
XM_005257110.1:c.910C>T	XP_005257167.1:p.Arg304Cys