Canonical Allele Identifier: CA8699220

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480410C>A , CM000679.2:g.63480410C>A	GRCh38
NC_000017.10:g.61557771C>A , CM000679.1:g.61557771C>A	GRCh37
NC_000017.9:g.58911503C>A	NCBI36
NG_011648.1:g.8338C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.729C>A MANE Select	NP_000780.1:p.Leu243=
ENST00000290866.10:c.729C>A MANE Select	ENSP00000290866.4:p.Leu243=
NM_000789.3:c.729C>A	NP_000780.1:p.Leu243=
NM_001382700.1:c.256C>A	NP_001369629.1:p.Leu86Ile
NM_001382701.1:c.-124C>A	NP_001369630.1:n.-124C>A
ENST00000290866.9:c.729C>A	ENSP00000290866.4:p.Leu243=
ENST00000428043.5:c.729C>A	ENSP00000397593.2:p.Leu243=
ENST00000580318.1:n.918C>A
ENST00000582627.1:c.729C>A	ENSP00000462280.1:p.Leu243=
ENST00000582678.5:c.*128C>A	ENSP00000462995.1:n.*128C>A
ENST00000584529.5:n.763C>A
XM_005257110.1:c.180C>A	XP_005257167.1:p.Leu60=