Canonical Allele Identifier: CA8699208

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480363C>T , CM000679.2:g.63480363C>T	GRCh38
NC_000017.10:g.61557724C>T , CM000679.1:g.61557724C>T	GRCh37
NC_000017.9:g.58911456C>T	NCBI36
NG_011648.1:g.8291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.682C>T MANE Select	ENSP00000290866.4:p.Arg228Cys
ENST00000290866.9:c.682C>T	ENSP00000290866.4:p.Arg228Cys
ENST00000428043.5:c.682C>T	ENSP00000397593.2:p.Arg228Cys
ENST00000580318.1:n.871C>T
ENST00000582627.1:c.682C>T	ENSP00000462280.1:p.Arg228Cys
ENST00000582678.5:c.*81C>T	ENSP00000462995.1:n.*81C>T
ENST00000584529.5:n.716C>T
NM_000789.3:c.682C>T	NP_000780.1:p.Arg228Cys
XM_005257110.1:c.133C>T	XP_005257167.1:p.Arg45Cys
NM_000789.4:c.682C>T MANE Select	NP_000780.1:p.Arg228Cys
NM_001382700.1:c.209C>T	NP_001369629.1:p.Ala70Val
NM_001382701.1:c.-171C>T	NP_001369630.1:n.-171C>T