Canonical Allele Identifier: CA2269950053

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497313C= , CM000679.2:g.63497313C=	GRCh38
NC_000017.10:g.61574674C= , CM000679.1:g.61574674C=	GRCh37
NC_000017.9:g.58928406C=	NCBI36
NG_011648.1:g.25241C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3868C= MANE Select	ENSP00000290866.4:p.Arg1290=
ENST00000290863.10:c.2146C=	ENSP00000290863.6:p.Arg716=
ENST00000290866.9:c.3868C=	ENSP00000290866.4:p.Arg1290=
ENST00000413513.7:c.2023C=	ENSP00000392247.3:p.Arg675=
ENST00000428043.5:c.*290C=	ENSP00000397593.2:n.*290C=
ENST00000577647.2:c.1969+328C=	ENSP00000464149.1:n.1969+328C=
ENST00000578839.5:c.*1623C=	ENSP00000462110.2:n.*1623C=
ENST00000579314.5:c.*1597C=	ENSP00000462599.1:n.*1597C=
NM_000789.3:c.3868C=	NP_000780.1:p.Arg1290=
NM_001178057.1:c.2023C=	NP_001171528.1:p.Arg675=
NM_152830.2:c.2146C=	NP_690043.1:p.Arg716=
XM_005257110.1:c.3319C=	XP_005257167.1:p.Arg1107=
XM_006721737.2:c.2206C=	XP_006721800.2:p.Arg736=
XM_006721737.3:c.2206C=	XP_006721800.2:p.Arg736=
NM_000789.4:c.3868C= MANE Select	NP_000780.1:p.Arg1290=
NM_001178057.2:c.2023C=	NP_001171528.1:p.Arg675=
NM_152830.3:c.2146C=	NP_690043.1:p.Arg716=
NM_001382700.1:c.3301C=	NP_001369629.1:p.Arg1101=
NM_001382701.1:c.3016C=	NP_001369630.1:p.Arg1006=
NM_001382702.1:c.1483C=	NP_001369631.1:p.Arg495=
NR_168483.1:n.2246C=