Canonical Allele Identifier: CA2269945985

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488764C= , CM000679.2:g.63488764C=	GRCh38
NC_000017.10:g.61566125C= , CM000679.1:g.61566125C=	GRCh37
NC_000017.9:g.58919857C=	NCBI36
NG_011648.1:g.16692C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2422C= MANE Select	ENSP00000290866.4:p.Leu808=
ENST00000290863.10:c.700C=	ENSP00000290863.6:p.Leu234=
ENST00000290866.9:c.2422C=	ENSP00000290866.4:p.Leu808=
ENST00000413513.7:c.700C=	ENSP00000392247.3:p.Leu234=
ENST00000428043.5:c.2422C=	ENSP00000397593.2:p.Leu808=
ENST00000577647.2:c.700C=	ENSP00000464149.1:p.Leu234=
ENST00000578839.5:c.*492C=	ENSP00000462110.2:n.*492C=
ENST00000579204.1:c.681C=	ENSP00000464629.1:n.681C=
ENST00000579314.5:c.*151C=	ENSP00000462599.1:n.*151C=
ENST00000582005.5:c.*342C=	ENSP00000462002.1:n.*342C=
ENST00000582761.1:c.190C=	ENSP00000462909.1:p.Leu64=
ENST00000584865.5:n.368C=
NM_000789.3:c.2422C=	NP_000780.1:p.Leu808=
NM_001178057.1:c.700C=	NP_001171528.1:p.Leu234=
NM_152830.2:c.700C=	NP_690043.1:p.Leu234=
XM_005257110.1:c.1873C=	XP_005257167.1:p.Leu625=
XM_006721737.2:c.760C=	XP_006721800.2:p.Leu254=
XM_006721737.3:c.760C=	XP_006721800.2:p.Leu254=
NM_000789.4:c.2422C= MANE Select	NP_000780.1:p.Leu808=
NM_001178057.2:c.700C=	NP_001171528.1:p.Leu234=
NM_152830.3:c.700C=	NP_690043.1:p.Leu234=
NM_001382700.1:c.1855C=	NP_001369629.1:p.Leu619=
NM_001382701.1:c.1570C=	NP_001369630.1:p.Leu524=
NM_001382702.1:c.352C=	NP_001369631.1:p.Leu118=
NR_168483.1:n.800C=