Canonical Allele Identifier: CA2269949996

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497194T= , CM000679.2:g.63497194T=	GRCh38
NC_000017.10:g.61574555T= , CM000679.1:g.61574555T=	GRCh37
NC_000017.9:g.58928287T=	NCBI36
NG_011648.1:g.25122T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3749T= MANE Select	ENSP00000290866.4:p.Leu1250=
ENST00000290863.10:c.2027T=	ENSP00000290863.6:p.Leu676=
ENST00000290866.9:c.3749T=	ENSP00000290866.4:p.Leu1250=
ENST00000413513.7:c.1904T=	ENSP00000392247.3:p.Leu635=
ENST00000428043.5:c.*171T=	ENSP00000397593.2:n.*171T=
ENST00000577647.2:c.1969+209T=	ENSP00000464149.1:n.1969+209T=
ENST00000578839.5:c.*1504T=	ENSP00000462110.2:n.*1504T=
ENST00000579314.5:c.*1478T=	ENSP00000462599.1:n.*1478T=
NM_000789.3:c.3749T=	NP_000780.1:p.Leu1250=
NM_001178057.1:c.1904T=	NP_001171528.1:p.Leu635=
NM_152830.2:c.2027T=	NP_690043.1:p.Leu676=
XM_005257110.1:c.3200T=	XP_005257167.1:p.Leu1067=
XM_006721737.2:c.2087T=	XP_006721800.2:p.Leu696=
XM_006721737.3:c.2087T=	XP_006721800.2:p.Leu696=
NM_000789.4:c.3749T= MANE Select	NP_000780.1:p.Leu1250=
NM_001178057.2:c.1904T=	NP_001171528.1:p.Leu635=
NM_152830.3:c.2027T=	NP_690043.1:p.Leu676=
NM_001382700.1:c.3182T=	NP_001369629.1:p.Leu1061=
NM_001382701.1:c.2897T=	NP_001369630.1:p.Leu966=
NM_001382702.1:c.1364T=	NP_001369631.1:p.Leu455=
NR_168483.1:n.2127T=