Canonical Allele Identifier: CA2269946115

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489016T= , CM000679.2:g.63489016T=	GRCh38
NC_000017.10:g.61566377T= , CM000679.1:g.61566377T=	GRCh37
NC_000017.9:g.58920109T=	NCBI36
NG_011648.1:g.16944T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2525T= MANE Select	ENSP00000290866.4:p.Phe842=
ENST00000290863.10:c.803T=	ENSP00000290863.6:p.Phe268=
ENST00000290866.9:c.2525T=	ENSP00000290866.4:p.Phe842=
ENST00000413513.7:c.803T=	ENSP00000392247.3:p.Phe268=
ENST00000428043.5:c.2525T=	ENSP00000397593.2:p.Phe842=
ENST00000577647.2:c.803T=	ENSP00000464149.1:p.Phe268=
ENST00000578839.5:c.*519+225T=	ENSP00000462110.2:n.*519+225T=
ENST00000579204.1:c.784T=	ENSP00000464629.1:n.784T=
ENST00000579314.5:c.*254T=	ENSP00000462599.1:n.*254T=
ENST00000582005.5:c.*445T=	ENSP00000462002.1:n.*445T=
ENST00000582761.1:c.293T=	ENSP00000462909.1:p.Phe98=
ENST00000584865.5:n.471T=
NM_000789.3:c.2525T=	NP_000780.1:p.Phe842=
NM_001178057.1:c.803T=	NP_001171528.1:p.Phe268=
NM_152830.2:c.803T=	NP_690043.1:p.Phe268=
XM_005257110.1:c.1976T=	XP_005257167.1:p.Phe659=
XM_006721737.2:c.863T=	XP_006721800.2:p.Phe288=
XM_006721737.3:c.863T=	XP_006721800.2:p.Phe288=
NM_000789.4:c.2525T= MANE Select	NP_000780.1:p.Phe842=
NM_001178057.2:c.803T=	NP_001171528.1:p.Phe268=
NM_152830.3:c.803T=	NP_690043.1:p.Phe268=
NM_001382700.1:c.1958T=	NP_001369629.1:p.Phe653=
NM_001382701.1:c.1673T=	NP_001369630.1:p.Phe558=
NM_001382702.1:c.379+225T=	NP_001369631.1:n.379+225T=
NR_168483.1:n.903T=