Canonical Allele Identifier: CA501342427

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574282C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496921C>A , CM000679.2:g.63496921C>A	GRCh38
NC_000017.10:g.61574282C>A , CM000679.1:g.61574282C>A	GRCh37
NC_000017.9:g.58928014C>A	NCBI36
NG_011648.1:g.24849C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3627C>A MANE Select	ENSP00000290866.4:p.Arg1209=
ENST00000290863.10:c.1905C>A	ENSP00000290863.6:p.Arg635=
ENST00000290866.9:c.3627C>A	ENSP00000290866.4:p.Arg1209=
ENST00000413513.7:c.1782C>A	ENSP00000392247.3:p.Arg594=
ENST00000428043.5:c.3627C>A	ENSP00000397593.2:p.Arg1209=
ENST00000577418.5:n.637C>A
ENST00000577647.2:c.1905C>A	ENSP00000464149.1:p.Arg635=
ENST00000578839.5:c.*1382C>A	ENSP00000462110.2:n.*1382C>A
ENST00000579314.5:c.*1356C>A	ENSP00000462599.1:n.*1356C>A
ENST00000579409.1:c.314C>A
ENST00000582244.1:n.501C>A
NM_000789.3:c.3627C>A	NP_000780.1:p.Arg1209=
NM_001178057.1:c.1782C>A	NP_001171528.1:p.Arg594=
NM_152830.2:c.1905C>A	NP_690043.1:p.Arg635=
XM_005257110.1:c.3078C>A	XP_005257167.1:p.Arg1026=
XM_006721737.2:c.1965C>A	XP_006721800.2:p.Arg655=
XM_006721737.3:c.1965C>A	XP_006721800.2:p.Arg655=
NM_000789.4:c.3627C>A MANE Select	NP_000780.1:p.Arg1209=
NM_001178057.2:c.1782C>A	NP_001171528.1:p.Arg594=
NM_152830.3:c.1905C>A	NP_690043.1:p.Arg635=
NM_001382700.1:c.3060C>A	NP_001369629.1:p.Arg1020=
NM_001382701.1:c.2775C>A	NP_001369630.1:p.Arg925=
NM_001382702.1:c.1242C>A	NP_001369631.1:p.Arg414=
NR_168483.1:n.2005C>A