Canonical Allele Identifier: CA501342301

Gene: ACE

Linked Data

• dbSNP Id: rs2030812681
• MyVariant Identifiers: chr17:g.61574547C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497186C>T , CM000679.2:g.63497186C>T	GRCh38
NC_000017.10:g.61574547C>T , CM000679.1:g.61574547C>T	GRCh37
NC_000017.9:g.58928279C>T	NCBI36
NG_011648.1:g.25114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3741C>T MANE Select	ENSP00000290866.4:p.Gly1247=
ENST00000290863.10:c.2019C>T	ENSP00000290863.6:p.Gly673=
ENST00000290866.9:c.3741C>T	ENSP00000290866.4:p.Gly1247=
ENST00000413513.7:c.1896C>T	ENSP00000392247.3:p.Gly632=
ENST00000428043.5:c.*163C>T	ENSP00000397593.2:n.*163C>T
ENST00000577647.2:c.1969+201C>T	ENSP00000464149.1:n.1969+201C>T
ENST00000578839.5:c.*1496C>T	ENSP00000462110.2:n.*1496C>T
ENST00000579314.5:c.*1470C>T	ENSP00000462599.1:n.*1470C>T
NM_000789.3:c.3741C>T	NP_000780.1:p.Gly1247=
NM_001178057.1:c.1896C>T	NP_001171528.1:p.Gly632=
NM_152830.2:c.2019C>T	NP_690043.1:p.Gly673=
XM_005257110.1:c.3192C>T	XP_005257167.1:p.Gly1064=
XM_006721737.2:c.2079C>T	XP_006721800.2:p.Gly693=
XM_006721737.3:c.2079C>T	XP_006721800.2:p.Gly693=
NM_000789.4:c.3741C>T MANE Select	NP_000780.1:p.Gly1247=
NM_001178057.2:c.1896C>T	NP_001171528.1:p.Gly632=
NM_152830.3:c.2019C>T	NP_690043.1:p.Gly673=
NM_001382700.1:c.3174C>T	NP_001369629.1:p.Gly1058=
NM_001382701.1:c.2889C>T	NP_001369630.1:p.Gly963=
NM_001382702.1:c.1356C>T	NP_001369631.1:p.Gly452=
NR_168483.1:n.2119C>T