Canonical Allele Identifier: CA2269950015

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497238C= , CM000679.2:g.63497238C=	GRCh38
NC_000017.10:g.61574599C= , CM000679.1:g.61574599C=	GRCh37
NC_000017.9:g.58928331C=	NCBI36
NG_011648.1:g.25166C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3793C= MANE Select	ENSP00000290866.4:p.Leu1265=
ENST00000290863.10:c.2071C=	ENSP00000290863.6:p.Leu691=
ENST00000290866.9:c.3793C=	ENSP00000290866.4:p.Leu1265=
ENST00000413513.7:c.1948C=	ENSP00000392247.3:p.Leu650=
ENST00000428043.5:c.*215C=	ENSP00000397593.2:n.*215C=
ENST00000577647.2:c.1969+253C=	ENSP00000464149.1:n.1969+253C=
ENST00000578839.5:c.*1548C=	ENSP00000462110.2:n.*1548C=
ENST00000579314.5:c.*1522C=	ENSP00000462599.1:n.*1522C=
NM_000789.3:c.3793C=	NP_000780.1:p.Leu1265=
NM_001178057.1:c.1948C=	NP_001171528.1:p.Leu650=
NM_152830.2:c.2071C=	NP_690043.1:p.Leu691=
XM_005257110.1:c.3244C=	XP_005257167.1:p.Leu1082=
XM_006721737.2:c.2131C=	XP_006721800.2:p.Leu711=
XM_006721737.3:c.2131C=	XP_006721800.2:p.Leu711=
NM_000789.4:c.3793C= MANE Select	NP_000780.1:p.Leu1265=
NM_001178057.2:c.1948C=	NP_001171528.1:p.Leu650=
NM_152830.3:c.2071C=	NP_690043.1:p.Leu691=
NM_001382700.1:c.3226C=	NP_001369629.1:p.Leu1076=
NM_001382701.1:c.2941C=	NP_001369630.1:p.Leu981=
NM_001382702.1:c.1408C=	NP_001369631.1:p.Leu470=
NR_168483.1:n.2171C=