Canonical Allele Identifier: CA2269945995

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488787C= , CM000679.2:g.63488787C=	GRCh38
NC_000017.10:g.61566148C= , CM000679.1:g.61566148C=	GRCh37
NC_000017.9:g.58919880C=	NCBI36
NG_011648.1:g.16715C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2445C= MANE Select	ENSP00000290866.4:p.Leu815=
ENST00000290863.10:c.723C=	ENSP00000290863.6:p.Leu241=
ENST00000290866.9:c.2445C=	ENSP00000290866.4:p.Leu815=
ENST00000413513.7:c.723C=	ENSP00000392247.3:p.Leu241=
ENST00000428043.5:c.2445C=	ENSP00000397593.2:p.Leu815=
ENST00000577647.2:c.723C=	ENSP00000464149.1:p.Leu241=
ENST00000578839.5:c.*515C=	ENSP00000462110.2:n.*515C=
ENST00000579204.1:c.704C=	ENSP00000464629.1:n.704C=
ENST00000579314.5:c.*174C=	ENSP00000462599.1:n.*174C=
ENST00000582005.5:c.*365C=	ENSP00000462002.1:n.*365C=
ENST00000582761.1:c.213C=	ENSP00000462909.1:p.Leu71=
ENST00000584865.5:n.391C=
NM_000789.3:c.2445C=	NP_000780.1:p.Leu815=
NM_001178057.1:c.723C=	NP_001171528.1:p.Leu241=
NM_152830.2:c.723C=	NP_690043.1:p.Leu241=
XM_005257110.1:c.1896C=	XP_005257167.1:p.Leu632=
XM_006721737.2:c.783C=	XP_006721800.2:p.Leu261=
XM_006721737.3:c.783C=	XP_006721800.2:p.Leu261=
NM_000789.4:c.2445C= MANE Select	NP_000780.1:p.Leu815=
NM_001178057.2:c.723C=	NP_001171528.1:p.Leu241=
NM_152830.3:c.723C=	NP_690043.1:p.Leu241=
NM_001382700.1:c.1878C=	NP_001369629.1:p.Leu626=
NM_001382701.1:c.1593C=	NP_001369630.1:p.Leu531=
NM_001382702.1:c.375C=	NP_001369631.1:p.Leu125=
NR_168483.1:n.823C=