Canonical Allele Identifier: CA2269945063

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487006T= , CM000679.2:g.63487006T=	GRCh38
NC_000017.10:g.61564367T= , CM000679.1:g.61564367T=	GRCh37
NC_000017.9:g.58918099T=	NCBI36
NG_011648.1:g.14934T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2238T= MANE Select	ENSP00000290866.4:p.Asp746=
ENST00000290863.10:c.516T=	ENSP00000290863.6:p.Asp172=
ENST00000290866.9:c.2238T=	ENSP00000290866.4:p.Asp746=
ENST00000413513.7:c.516T=	ENSP00000392247.3:p.Asp172=
ENST00000428043.5:c.2238T=	ENSP00000397593.2:p.Asp746=
ENST00000577647.2:c.516T=	ENSP00000464149.1:p.Asp172=
ENST00000578839.5:c.*308T=	ENSP00000462110.2:n.*308T=
ENST00000579204.1:c.419T=	ENSP00000464629.1:n.419T=
ENST00000579314.5:c.516T=	ENSP00000462599.1:p.Asp172=
ENST00000579726.5:c.800T=
ENST00000582005.5:c.*158T=	ENSP00000462002.1:n.*158T=
ENST00000582761.1:c.6T=	ENSP00000462909.1:p.Asp2=
ENST00000584865.5:n.184T=
NM_000789.3:c.2238T=	NP_000780.1:p.Asp746=
NM_001178057.1:c.516T=	NP_001171528.1:p.Asp172=
NM_152830.2:c.516T=	NP_690043.1:p.Asp172=
XM_005257110.1:c.1689T=	XP_005257167.1:p.Asp563=
XM_006721737.2:c.576T=	XP_006721800.2:p.Asp192=
XM_006721737.3:c.576T=	XP_006721800.2:p.Asp192=
NM_000789.4:c.2238T= MANE Select	NP_000780.1:p.Asp746=
NM_001178057.2:c.516T=	NP_001171528.1:p.Asp172=
NM_152830.3:c.516T=	NP_690043.1:p.Asp172=
NM_001382700.1:c.1671T=	NP_001369629.1:p.Asp557=
NM_001382701.1:c.1386T=	NP_001369630.1:p.Asp462=
NM_001382702.1:c.168T=	NP_001369631.1:p.Asp56=
NR_168483.1:n.538T=