Canonical Allele Identifier: CA2269945095

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487066C= , CM000679.2:g.63487066C=	GRCh38
NC_000017.10:g.61564427C= , CM000679.1:g.61564427C=	GRCh37
NC_000017.9:g.58918159C=	NCBI36
NG_011648.1:g.14994C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2298C= MANE Select	ENSP00000290866.4:p.Leu766=
ENST00000290863.10:c.576C=	ENSP00000290863.6:p.Leu192=
ENST00000290866.9:c.2298C=	ENSP00000290866.4:p.Leu766=
ENST00000413513.7:c.576C=	ENSP00000392247.3:p.Leu192=
ENST00000428043.5:c.2298C=	ENSP00000397593.2:p.Leu766=
ENST00000577647.2:c.576C=	ENSP00000464149.1:p.Leu192=
ENST00000578839.5:c.*368C=	ENSP00000462110.2:n.*368C=
ENST00000579204.1:c.479C=	ENSP00000464629.1:n.479C=
ENST00000579314.5:c.576C=	ENSP00000462599.1:p.Leu192=
ENST00000579726.5:c.860C=
ENST00000582005.5:c.*218C=	ENSP00000462002.1:n.*218C=
ENST00000582761.1:c.66C=	ENSP00000462909.1:p.Leu22=
ENST00000584865.5:n.244C=
NM_000789.3:c.2298C=	NP_000780.1:p.Leu766=
NM_001178057.1:c.576C=	NP_001171528.1:p.Leu192=
NM_152830.2:c.576C=	NP_690043.1:p.Leu192=
XM_005257110.1:c.1749C=	XP_005257167.1:p.Leu583=
XM_006721737.2:c.636C=	XP_006721800.2:p.Leu212=
XM_006721737.3:c.636C=	XP_006721800.2:p.Leu212=
NM_000789.4:c.2298C= MANE Select	NP_000780.1:p.Leu766=
NM_001178057.2:c.576C=	NP_001171528.1:p.Leu192=
NM_152830.3:c.576C=	NP_690043.1:p.Leu192=
NM_001382700.1:c.1731C=	NP_001369629.1:p.Leu577=
NM_001382701.1:c.1446C=	NP_001369630.1:p.Leu482=
NM_001382702.1:c.228C=	NP_001369631.1:p.Leu76=
NR_168483.1:n.598C=