Canonical Allele Identifier: CA2269945060

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487000G= , CM000679.2:g.63487000G=	GRCh38
NC_000017.10:g.61564361G= , CM000679.1:g.61564361G=	GRCh37
NC_000017.9:g.58918093G=	NCBI36
NG_011648.1:g.14928G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2232G= MANE Select	ENSP00000290866.4:p.Leu744=
ENST00000290863.10:c.510G=	ENSP00000290863.6:p.Leu170=
ENST00000290866.9:c.2232G=	ENSP00000290866.4:p.Leu744=
ENST00000413513.7:c.510G=	ENSP00000392247.3:p.Leu170=
ENST00000428043.5:c.2232G=	ENSP00000397593.2:p.Leu744=
ENST00000577647.2:c.510G=	ENSP00000464149.1:p.Leu170=
ENST00000578839.5:c.*302G=	ENSP00000462110.2:n.*302G=
ENST00000579204.1:c.413G=	ENSP00000464629.1:n.413G=
ENST00000579314.5:c.510G=	ENSP00000462599.1:p.Leu170=
ENST00000579726.5:c.794G=
ENST00000582005.5:c.*152G=	ENSP00000462002.1:n.*152G=
ENST00000584865.5:n.178G=
NM_000789.3:c.2232G=	NP_000780.1:p.Leu744=
NM_001178057.1:c.510G=	NP_001171528.1:p.Leu170=
NM_152830.2:c.510G=	NP_690043.1:p.Leu170=
XM_005257110.1:c.1683G=	XP_005257167.1:p.Leu561=
XM_006721737.2:c.570G=	XP_006721800.2:p.Leu190=
XM_006721737.3:c.570G=	XP_006721800.2:p.Leu190=
NM_000789.4:c.2232G= MANE Select	NP_000780.1:p.Leu744=
NM_001178057.2:c.510G=	NP_001171528.1:p.Leu170=
NM_152830.3:c.510G=	NP_690043.1:p.Leu170=
NM_001382700.1:c.1665G=	NP_001369629.1:p.Leu555=
NM_001382701.1:c.1380G=	NP_001369630.1:p.Leu460=
NM_001382702.1:c.162G=	NP_001369631.1:p.Leu54=
NR_168483.1:n.532G=