Canonical Allele Identifier: CA2269950070

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497334T= , CM000679.2:g.63497334T=	GRCh38
NC_000017.10:g.61574695T= , CM000679.1:g.61574695T=	GRCh37
NC_000017.9:g.58928427T=	NCBI36
NG_011648.1:g.25262T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3889T= MANE Select	ENSP00000290866.4:p.Phe1297=
ENST00000290863.10:c.2167T=	ENSP00000290863.6:p.Phe723=
ENST00000290866.9:c.3889T=	ENSP00000290866.4:p.Phe1297=
ENST00000413513.7:c.2044T=	ENSP00000392247.3:p.Phe682=
ENST00000428043.5:c.*311T=	ENSP00000397593.2:n.*311T=
ENST00000577647.2:c.1969+349T=	ENSP00000464149.1:n.1969+349T=
ENST00000578839.5:c.*1644T=	ENSP00000462110.2:n.*1644T=
ENST00000579314.5:c.*1618T=	ENSP00000462599.1:n.*1618T=
NM_000789.3:c.3889T=	NP_000780.1:p.Phe1297=
NM_001178057.1:c.2044T=	NP_001171528.1:p.Phe682=
NM_152830.2:c.2167T=	NP_690043.1:p.Phe723=
XM_005257110.1:c.3340T=	XP_005257167.1:p.Phe1114=
XM_006721737.2:c.2227T=	XP_006721800.2:p.Phe743=
XM_006721737.3:c.2227T=	XP_006721800.2:p.Phe743=
NM_000789.4:c.3889T= MANE Select	NP_000780.1:p.Phe1297=
NM_001178057.2:c.2044T=	NP_001171528.1:p.Phe682=
NM_152830.3:c.2167T=	NP_690043.1:p.Phe723=
NM_001382700.1:c.3322T=	NP_001369629.1:p.Phe1108=
NM_001382701.1:c.3037T=	NP_001369630.1:p.Phe1013=
NM_001382702.1:c.1504T=	NP_001369631.1:p.Phe502=
NR_168483.1:n.2267T=