Canonical Allele Identifier: CA501342290

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574535C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497174C>G , CM000679.2:g.63497174C>G	GRCh38
NC_000017.10:g.61574535C>G , CM000679.1:g.61574535C>G	GRCh37
NC_000017.9:g.58928267C>G	NCBI36
NG_011648.1:g.25102C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3729C>G MANE Select	ENSP00000290866.4:p.Val1243=
ENST00000290863.10:c.2007C>G	ENSP00000290863.6:p.Val669=
ENST00000290866.9:c.3729C>G	ENSP00000290866.4:p.Val1243=
ENST00000413513.7:c.1884C>G	ENSP00000392247.3:p.Val628=
ENST00000428043.5:c.*151C>G	ENSP00000397593.2:n.*151C>G
ENST00000577647.2:c.1969+189C>G	ENSP00000464149.1:n.1969+189C>G
ENST00000578839.5:c.*1484C>G	ENSP00000462110.2:n.*1484C>G
ENST00000579314.5:c.*1458C>G	ENSP00000462599.1:n.*1458C>G
NM_000789.3:c.3729C>G	NP_000780.1:p.Val1243=
NM_001178057.1:c.1884C>G	NP_001171528.1:p.Val628=
NM_152830.2:c.2007C>G	NP_690043.1:p.Val669=
XM_005257110.1:c.3180C>G	XP_005257167.1:p.Val1060=
XM_006721737.2:c.2067C>G	XP_006721800.2:p.Val689=
XM_006721737.3:c.2067C>G	XP_006721800.2:p.Val689=
NM_000789.4:c.3729C>G MANE Select	NP_000780.1:p.Val1243=
NM_001178057.2:c.1884C>G	NP_001171528.1:p.Val628=
NM_152830.3:c.2007C>G	NP_690043.1:p.Val669=
NM_001382700.1:c.3162C>G	NP_001369629.1:p.Val1054=
NM_001382701.1:c.2877C>G	NP_001369630.1:p.Val959=
NM_001382702.1:c.1344C>G	NP_001369631.1:p.Val448=
NR_168483.1:n.2107C>G