Canonical Allele Identifier: CA2269945093

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487059T= , CM000679.2:g.63487059T=	GRCh38
NC_000017.10:g.61564420T= , CM000679.1:g.61564420T=	GRCh37
NC_000017.9:g.58918152T=	NCBI36
NG_011648.1:g.14987T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2291T= MANE Select	ENSP00000290866.4:p.Leu764=
ENST00000290863.10:c.569T=	ENSP00000290863.6:p.Leu190=
ENST00000290866.9:c.2291T=	ENSP00000290866.4:p.Leu764=
ENST00000413513.7:c.569T=	ENSP00000392247.3:p.Leu190=
ENST00000428043.5:c.2291T=	ENSP00000397593.2:p.Leu764=
ENST00000577647.2:c.569T=	ENSP00000464149.1:p.Leu190=
ENST00000578839.5:c.*361T=	ENSP00000462110.2:n.*361T=
ENST00000579204.1:c.472T=	ENSP00000464629.1:n.472T=
ENST00000579314.5:c.569T=	ENSP00000462599.1:p.Leu190=
ENST00000579726.5:c.853T=
ENST00000582005.5:c.*211T=	ENSP00000462002.1:n.*211T=
ENST00000582761.1:c.59T=	ENSP00000462909.1:p.Leu20=
ENST00000584865.5:n.237T=
NM_000789.3:c.2291T=	NP_000780.1:p.Leu764=
NM_001178057.1:c.569T=	NP_001171528.1:p.Leu190=
NM_152830.2:c.569T=	NP_690043.1:p.Leu190=
XM_005257110.1:c.1742T=	XP_005257167.1:p.Leu581=
XM_006721737.2:c.629T=	XP_006721800.2:p.Leu210=
XM_006721737.3:c.629T=	XP_006721800.2:p.Leu210=
NM_000789.4:c.2291T= MANE Select	NP_000780.1:p.Leu764=
NM_001178057.2:c.569T=	NP_001171528.1:p.Leu190=
NM_152830.3:c.569T=	NP_690043.1:p.Leu190=
NM_001382700.1:c.1724T=	NP_001369629.1:p.Leu575=
NM_001382701.1:c.1439T=	NP_001369630.1:p.Leu480=
NM_001382702.1:c.221T=	NP_001369631.1:p.Leu74=
NR_168483.1:n.591T=