Canonical Allele Identifier: CA501342433

Gene: ACE

Linked Data

• dbSNP Id: rs1568049115
• gnomAD v4: 17-63496927-G-A
• MyVariant Identifiers: chr17:g.61574288G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496927G>A , CM000679.2:g.63496927G>A	GRCh38
NC_000017.10:g.61574288G>A , CM000679.1:g.61574288G>A	GRCh37
NC_000017.9:g.58928020G>A	NCBI36
NG_011648.1:g.24855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3633G>A MANE Select	ENSP00000290866.4:p.Glu1211=
ENST00000290863.10:c.1911G>A	ENSP00000290863.6:p.Glu637=
ENST00000290866.9:c.3633G>A	ENSP00000290866.4:p.Glu1211=
ENST00000413513.7:c.1788G>A	ENSP00000392247.3:p.Glu596=
ENST00000428043.5:c.3633G>A	ENSP00000397593.2:p.Glu1211=
ENST00000577418.5:n.643G>A
ENST00000577647.2:c.1911G>A	ENSP00000464149.1:p.Glu637=
ENST00000578839.5:c.*1388G>A	ENSP00000462110.2:n.*1388G>A
ENST00000579314.5:c.*1362G>A	ENSP00000462599.1:n.*1362G>A
ENST00000579409.1:c.320G>A
ENST00000582244.1:n.507G>A
NM_000789.3:c.3633G>A	NP_000780.1:p.Glu1211=
NM_001178057.1:c.1788G>A	NP_001171528.1:p.Glu596=
NM_152830.2:c.1911G>A	NP_690043.1:p.Glu637=
XM_005257110.1:c.3084G>A	XP_005257167.1:p.Glu1028=
XM_006721737.2:c.1971G>A	XP_006721800.2:p.Glu657=
XM_006721737.3:c.1971G>A	XP_006721800.2:p.Glu657=
NM_000789.4:c.3633G>A MANE Select	NP_000780.1:p.Glu1211=
NM_001178057.2:c.1788G>A	NP_001171528.1:p.Glu596=
NM_152830.3:c.1911G>A	NP_690043.1:p.Glu637=
NM_001382700.1:c.3066G>A	NP_001369629.1:p.Glu1022=
NM_001382701.1:c.2781G>A	NP_001369630.1:p.Glu927=
NM_001382702.1:c.1248G>A	NP_001369631.1:p.Glu416=
NR_168483.1:n.2011G>A