Canonical Allele Identifier: CA501342521

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574694G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497333G>A , CM000679.2:g.63497333G>A	GRCh38
NC_000017.10:g.61574694G>A , CM000679.1:g.61574694G>A	GRCh37
NC_000017.9:g.58928426G>A	NCBI36
NG_011648.1:g.25261G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3888G>A MANE Select	ENSP00000290866.4:p.Gln1296=
ENST00000290863.10:c.2166G>A	ENSP00000290863.6:p.Gln722=
ENST00000290866.9:c.3888G>A	ENSP00000290866.4:p.Gln1296=
ENST00000413513.7:c.2043G>A	ENSP00000392247.3:p.Gln681=
ENST00000428043.5:c.*310G>A	ENSP00000397593.2:n.*310G>A
ENST00000577647.2:c.1969+348G>A	ENSP00000464149.1:n.1969+348G>A
ENST00000578839.5:c.*1643G>A	ENSP00000462110.2:n.*1643G>A
ENST00000579314.5:c.*1617G>A	ENSP00000462599.1:n.*1617G>A
NM_000789.3:c.3888G>A	NP_000780.1:p.Gln1296=
NM_001178057.1:c.2043G>A	NP_001171528.1:p.Gln681=
NM_152830.2:c.2166G>A	NP_690043.1:p.Gln722=
XM_005257110.1:c.3339G>A	XP_005257167.1:p.Gln1113=
XM_006721737.2:c.2226G>A	XP_006721800.2:p.Gln742=
XM_006721737.3:c.2226G>A	XP_006721800.2:p.Gln742=
NM_000789.4:c.3888G>A MANE Select	NP_000780.1:p.Gln1296=
NM_001178057.2:c.2043G>A	NP_001171528.1:p.Gln681=
NM_152830.3:c.2166G>A	NP_690043.1:p.Gln722=
NM_001382700.1:c.3321G>A	NP_001369629.1:p.Gln1107=
NM_001382701.1:c.3036G>A	NP_001369630.1:p.Gln1012=
NM_001382702.1:c.1503G>A	NP_001369631.1:p.Gln501=
NR_168483.1:n.2266G>A