Canonical Allele Identifier: CA2269950036

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497287T= , CM000679.2:g.63497287T=	GRCh38
NC_000017.10:g.61574648T= , CM000679.1:g.61574648T=	GRCh37
NC_000017.9:g.58928380T=	NCBI36
NG_011648.1:g.25215T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3842T= MANE Select	ENSP00000290866.4:p.Phe1281=
ENST00000290863.10:c.2120T=	ENSP00000290863.6:p.Phe707=
ENST00000290866.9:c.3842T=	ENSP00000290866.4:p.Phe1281=
ENST00000413513.7:c.1997T=	ENSP00000392247.3:p.Phe666=
ENST00000428043.5:c.*264T=	ENSP00000397593.2:n.*264T=
ENST00000577647.2:c.1969+302T=	ENSP00000464149.1:n.1969+302T=
ENST00000578839.5:c.*1597T=	ENSP00000462110.2:n.*1597T=
ENST00000579314.5:c.*1571T=	ENSP00000462599.1:n.*1571T=
NM_000789.3:c.3842T=	NP_000780.1:p.Phe1281=
NM_001178057.1:c.1997T=	NP_001171528.1:p.Phe666=
NM_152830.2:c.2120T=	NP_690043.1:p.Phe707=
XM_005257110.1:c.3293T=	XP_005257167.1:p.Phe1098=
XM_006721737.2:c.2180T=	XP_006721800.2:p.Phe727=
XM_006721737.3:c.2180T=	XP_006721800.2:p.Phe727=
NM_000789.4:c.3842T= MANE Select	NP_000780.1:p.Phe1281=
NM_001178057.2:c.1997T=	NP_001171528.1:p.Phe666=
NM_152830.3:c.2120T=	NP_690043.1:p.Phe707=
NM_001382700.1:c.3275T=	NP_001369629.1:p.Phe1092=
NM_001382701.1:c.2990T=	NP_001369630.1:p.Phe997=
NM_001382702.1:c.1457T=	NP_001369631.1:p.Phe486=
NR_168483.1:n.2220T=