Canonical Allele Identifier: CA2269950024

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497254T= , CM000679.2:g.63497254T=	GRCh38
NC_000017.10:g.61574615T= , CM000679.1:g.61574615T=	GRCh37
NC_000017.9:g.58928347T=	NCBI36
NG_011648.1:g.25182T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3809T= MANE Select	ENSP00000290866.4:p.Leu1270=
ENST00000290863.10:c.2087T=	ENSP00000290863.6:p.Leu696=
ENST00000290866.9:c.3809T=	ENSP00000290866.4:p.Leu1270=
ENST00000413513.7:c.1964T=	ENSP00000392247.3:p.Leu655=
ENST00000428043.5:c.*231T=	ENSP00000397593.2:n.*231T=
ENST00000577647.2:c.1969+269T=	ENSP00000464149.1:n.1969+269T=
ENST00000578839.5:c.*1564T=	ENSP00000462110.2:n.*1564T=
ENST00000579314.5:c.*1538T=	ENSP00000462599.1:n.*1538T=
NM_000789.3:c.3809T=	NP_000780.1:p.Leu1270=
NM_001178057.1:c.1964T=	NP_001171528.1:p.Leu655=
NM_152830.2:c.2087T=	NP_690043.1:p.Leu696=
XM_005257110.1:c.3260T=	XP_005257167.1:p.Leu1087=
XM_006721737.2:c.2147T=	XP_006721800.2:p.Leu716=
XM_006721737.3:c.2147T=	XP_006721800.2:p.Leu716=
NM_000789.4:c.3809T= MANE Select	NP_000780.1:p.Leu1270=
NM_001178057.2:c.1964T=	NP_001171528.1:p.Leu655=
NM_152830.3:c.2087T=	NP_690043.1:p.Leu696=
NM_001382700.1:c.3242T=	NP_001369629.1:p.Leu1081=
NM_001382701.1:c.2957T=	NP_001369630.1:p.Leu986=
NM_001382702.1:c.1424T=	NP_001369631.1:p.Leu475=
NR_168483.1:n.2187T=