Canonical Allele Identifier: CA501342384

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574619A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497258A>C , CM000679.2:g.63497258A>C	GRCh38
NC_000017.10:g.61574619A>C , CM000679.1:g.61574619A>C	GRCh37
NC_000017.9:g.58928351A>C	NCBI36
NG_011648.1:g.25186A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3813A>C MANE Select	ENSP00000290866.4:p.Val1271=
ENST00000290863.10:c.2091A>C	ENSP00000290863.6:p.Val697=
ENST00000290866.9:c.3813A>C	ENSP00000290866.4:p.Val1271=
ENST00000413513.7:c.1968A>C	ENSP00000392247.3:p.Val656=
ENST00000428043.5:c.*235A>C	ENSP00000397593.2:n.*235A>C
ENST00000577647.2:c.1969+273A>C	ENSP00000464149.1:n.1969+273A>C
ENST00000578839.5:c.*1568A>C	ENSP00000462110.2:n.*1568A>C
ENST00000579314.5:c.*1542A>C	ENSP00000462599.1:n.*1542A>C
NM_000789.3:c.3813A>C	NP_000780.1:p.Val1271=
NM_001178057.1:c.1968A>C	NP_001171528.1:p.Val656=
NM_152830.2:c.2091A>C	NP_690043.1:p.Val697=
XM_005257110.1:c.3264A>C	XP_005257167.1:p.Val1088=
XM_006721737.2:c.2151A>C	XP_006721800.2:p.Val717=
XM_006721737.3:c.2151A>C	XP_006721800.2:p.Val717=
NM_000789.4:c.3813A>C MANE Select	NP_000780.1:p.Val1271=
NM_001178057.2:c.1968A>C	NP_001171528.1:p.Val656=
NM_152830.3:c.2091A>C	NP_690043.1:p.Val697=
NM_001382700.1:c.3246A>C	NP_001369629.1:p.Val1082=
NM_001382701.1:c.2961A>C	NP_001369630.1:p.Val987=
NM_001382702.1:c.1428A>C	NP_001369631.1:p.Val476=
NR_168483.1:n.2191A>C