Canonical Allele Identifier: CA2269950021

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497250C= , CM000679.2:g.63497250C=	GRCh38
NC_000017.10:g.61574611C= , CM000679.1:g.61574611C=	GRCh37
NC_000017.9:g.58928343C=	NCBI36
NG_011648.1:g.25178C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3805C= MANE Select	ENSP00000290866.4:p.Leu1269=
ENST00000290863.10:c.2083C=	ENSP00000290863.6:p.Leu695=
ENST00000290866.9:c.3805C=	ENSP00000290866.4:p.Leu1269=
ENST00000413513.7:c.1960C=	ENSP00000392247.3:p.Leu654=
ENST00000428043.5:c.*227C=	ENSP00000397593.2:n.*227C=
ENST00000577647.2:c.1969+265C=	ENSP00000464149.1:n.1969+265C=
ENST00000578839.5:c.*1560C=	ENSP00000462110.2:n.*1560C=
ENST00000579314.5:c.*1534C=	ENSP00000462599.1:n.*1534C=
NM_000789.3:c.3805C=	NP_000780.1:p.Leu1269=
NM_001178057.1:c.1960C=	NP_001171528.1:p.Leu654=
NM_152830.2:c.2083C=	NP_690043.1:p.Leu695=
XM_005257110.1:c.3256C=	XP_005257167.1:p.Leu1086=
XM_006721737.2:c.2143C=	XP_006721800.2:p.Leu715=
XM_006721737.3:c.2143C=	XP_006721800.2:p.Leu715=
NM_000789.4:c.3805C= MANE Select	NP_000780.1:p.Leu1269=
NM_001178057.2:c.1960C=	NP_001171528.1:p.Leu654=
NM_152830.3:c.2083C=	NP_690043.1:p.Leu695=
NM_001382700.1:c.3238C=	NP_001369629.1:p.Leu1080=
NM_001382701.1:c.2953C=	NP_001369630.1:p.Leu985=
NM_001382702.1:c.1420C=	NP_001369631.1:p.Leu474=
NR_168483.1:n.2183C=