Canonical Allele Identifier: CA2269945929

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488652G= , CM000679.2:g.63488652G=	GRCh38
NC_000017.10:g.61566013G= , CM000679.1:g.61566013G=	GRCh37
NC_000017.9:g.58919745G=	NCBI36
NG_011648.1:g.16580G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2310G= MANE Select	ENSP00000290866.4:p.Leu770=
ENST00000290863.10:c.588G=	ENSP00000290863.6:p.Leu196=
ENST00000290866.9:c.2310G=	ENSP00000290866.4:p.Leu770=
ENST00000413513.7:c.588G=	ENSP00000392247.3:p.Leu196=
ENST00000428043.5:c.2310G=	ENSP00000397593.2:p.Leu770=
ENST00000577647.2:c.588G=	ENSP00000464149.1:p.Leu196=
ENST00000578839.5:c.*380G=	ENSP00000462110.2:n.*380G=
ENST00000579204.1:c.569G=	ENSP00000464629.1:n.569G=
ENST00000579314.5:c.*39G=	ENSP00000462599.1:n.*39G=
ENST00000582005.5:c.*230G=	ENSP00000462002.1:n.*230G=
ENST00000582761.1:c.78G=	ENSP00000462909.1:p.Leu26=
ENST00000584865.5:n.256G=
NM_000789.3:c.2310G=	NP_000780.1:p.Leu770=
NM_001178057.1:c.588G=	NP_001171528.1:p.Leu196=
NM_152830.2:c.588G=	NP_690043.1:p.Leu196=
XM_005257110.1:c.1761G=	XP_005257167.1:p.Leu587=
XM_006721737.2:c.648G=	XP_006721800.2:p.Leu216=
XM_006721737.3:c.648G=	XP_006721800.2:p.Leu216=
NM_000789.4:c.2310G= MANE Select	NP_000780.1:p.Leu770=
NM_001178057.2:c.588G=	NP_001171528.1:p.Leu196=
NM_152830.3:c.588G=	NP_690043.1:p.Leu196=
NM_001382700.1:c.1743G=	NP_001369629.1:p.Leu581=
NM_001382701.1:c.1458G=	NP_001369630.1:p.Leu486=
NM_001382702.1:c.240G=	NP_001369631.1:p.Leu80=
NR_168483.1:n.688G=