Canonical Allele Identifier: CA2269950000
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497205C= , CM000679.2:g.63497205C= GRCh38
NC_000017.10:g.61574566C= , CM000679.1:g.61574566C= GRCh37
NC_000017.9:g.58928298C= NCBI36
NG_011648.1:g.25133C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3760C= MANE Select ENSP00000290866.4:p.Gln1254=
ENST00000290863.10:c.2038C= ENSP00000290863.6:p.Gln680=
ENST00000290866.9:c.3760C= ENSP00000290866.4:p.Gln1254=
ENST00000413513.7:c.1915C= ENSP00000392247.3:p.Gln639=
ENST00000428043.5:c.*182C= ENSP00000397593.2:n.*182C=
ENST00000577647.2:c.1969+220C= ENSP00000464149.1:n.1969+220C=
ENST00000578839.5:c.*1515C= ENSP00000462110.2:n.*1515C=
ENST00000579314.5:c.*1489C= ENSP00000462599.1:n.*1489C=
NM_000789.3:c.3760C= NP_000780.1:p.Gln1254=
NM_001178057.1:c.1915C= NP_001171528.1:p.Gln639=
NM_152830.2:c.2038C= NP_690043.1:p.Gln680=
XM_005257110.1:c.3211C= XP_005257167.1:p.Gln1071=
XM_006721737.2:c.2098C= XP_006721800.2:p.Gln700=
XM_006721737.3:c.2098C= XP_006721800.2:p.Gln700=
NM_000789.4:c.3760C= MANE Select NP_000780.1:p.Gln1254=
NM_001178057.2:c.1915C= NP_001171528.1:p.Gln639=
NM_152830.3:c.2038C= NP_690043.1:p.Gln680=
NM_001382700.1:c.3193C= NP_001369629.1:p.Gln1065=
NM_001382701.1:c.2908C= NP_001369630.1:p.Gln970=
NM_001382702.1:c.1375C= NP_001369631.1:p.Gln459=
NR_168483.1:n.2138C=