Canonical Allele Identifier: CA2269950022

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497252G= , CM000679.2:g.63497252G=	GRCh38
NC_000017.10:g.61574613G= , CM000679.1:g.61574613G=	GRCh37
NC_000017.9:g.58928345G=	NCBI36
NG_011648.1:g.25180G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3807G= MANE Select	ENSP00000290866.4:p.Leu1269=
ENST00000290863.10:c.2085G=	ENSP00000290863.6:p.Leu695=
ENST00000290866.9:c.3807G=	ENSP00000290866.4:p.Leu1269=
ENST00000413513.7:c.1962G=	ENSP00000392247.3:p.Leu654=
ENST00000428043.5:c.*229G=	ENSP00000397593.2:n.*229G=
ENST00000577647.2:c.1969+267G=	ENSP00000464149.1:n.1969+267G=
ENST00000578839.5:c.*1562G=	ENSP00000462110.2:n.*1562G=
ENST00000579314.5:c.*1536G=	ENSP00000462599.1:n.*1536G=
NM_000789.3:c.3807G=	NP_000780.1:p.Leu1269=
NM_001178057.1:c.1962G=	NP_001171528.1:p.Leu654=
NM_152830.2:c.2085G=	NP_690043.1:p.Leu695=
XM_005257110.1:c.3258G=	XP_005257167.1:p.Leu1086=
XM_006721737.2:c.2145G=	XP_006721800.2:p.Leu715=
XM_006721737.3:c.2145G=	XP_006721800.2:p.Leu715=
NM_000789.4:c.3807G= MANE Select	NP_000780.1:p.Leu1269=
NM_001178057.2:c.1962G=	NP_001171528.1:p.Leu654=
NM_152830.3:c.2085G=	NP_690043.1:p.Leu695=
NM_001382700.1:c.3240G=	NP_001369629.1:p.Leu1080=
NM_001382701.1:c.2955G=	NP_001369630.1:p.Leu985=
NM_001382702.1:c.1422G=	NP_001369631.1:p.Leu474=
NR_168483.1:n.2185G=