Canonical Allele Identifier: CA2269945059

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486997C= , CM000679.2:g.63486997C=	GRCh38
NC_000017.10:g.61564358C= , CM000679.1:g.61564358C=	GRCh37
NC_000017.9:g.58918090C=	NCBI36
NG_011648.1:g.14925C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2229C= MANE Select	ENSP00000290866.4:p.Ile743=
ENST00000290863.10:c.507C=	ENSP00000290863.6:p.Ile169=
ENST00000290866.9:c.2229C=	ENSP00000290866.4:p.Ile743=
ENST00000413513.7:c.507C=	ENSP00000392247.3:p.Ile169=
ENST00000428043.5:c.2229C=	ENSP00000397593.2:p.Ile743=
ENST00000577647.2:c.507C=	ENSP00000464149.1:p.Ile169=
ENST00000578839.5:c.*299C=	ENSP00000462110.2:n.*299C=
ENST00000579204.1:c.410C=	ENSP00000464629.1:n.410C=
ENST00000579314.5:c.507C=	ENSP00000462599.1:p.Ile169=
ENST00000579726.5:c.791C=
ENST00000582005.5:c.*149C=	ENSP00000462002.1:n.*149C=
ENST00000584865.5:n.175C=
NM_000789.3:c.2229C=	NP_000780.1:p.Ile743=
NM_001178057.1:c.507C=	NP_001171528.1:p.Ile169=
NM_152830.2:c.507C=	NP_690043.1:p.Ile169=
XM_005257110.1:c.1680C=	XP_005257167.1:p.Ile560=
XM_006721737.2:c.567C=	XP_006721800.2:p.Ile189=
XM_006721737.3:c.567C=	XP_006721800.2:p.Ile189=
NM_000789.4:c.2229C= MANE Select	NP_000780.1:p.Ile743=
NM_001178057.2:c.507C=	NP_001171528.1:p.Ile169=
NM_152830.3:c.507C=	NP_690043.1:p.Ile169=
NM_001382700.1:c.1662C=	NP_001369629.1:p.Ile554=
NM_001382701.1:c.1377C=	NP_001369630.1:p.Ile459=
NM_001382702.1:c.159C=	NP_001369631.1:p.Ile53=
NR_168483.1:n.529C=