Canonical Allele Identifier: CA2269950043
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497301C= , CM000679.2:g.63497301C= GRCh38
NC_000017.10:g.61574662C= , CM000679.1:g.61574662C= GRCh37
NC_000017.9:g.58928394C= NCBI36
NG_011648.1:g.25229C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3856C= MANE Select ENSP00000290866.4:p.Arg1286=
ENST00000290863.10:c.2134C= ENSP00000290863.6:p.Arg712=
ENST00000290866.9:c.3856C= ENSP00000290866.4:p.Arg1286=
ENST00000413513.7:c.2011C= ENSP00000392247.3:p.Arg671=
ENST00000428043.5:c.*278C= ENSP00000397593.2:n.*278C=
ENST00000577647.2:c.1969+316C= ENSP00000464149.1:n.1969+316C=
ENST00000578839.5:c.*1611C= ENSP00000462110.2:n.*1611C=
ENST00000579314.5:c.*1585C= ENSP00000462599.1:n.*1585C=
NM_000789.3:c.3856C= NP_000780.1:p.Arg1286=
NM_001178057.1:c.2011C= NP_001171528.1:p.Arg671=
NM_152830.2:c.2134C= NP_690043.1:p.Arg712=
XM_005257110.1:c.3307C= XP_005257167.1:p.Arg1103=
XM_006721737.2:c.2194C= XP_006721800.2:p.Arg732=
XM_006721737.3:c.2194C= XP_006721800.2:p.Arg732=
NM_000789.4:c.3856C= MANE Select NP_000780.1:p.Arg1286=
NM_001178057.2:c.2011C= NP_001171528.1:p.Arg671=
NM_152830.3:c.2134C= NP_690043.1:p.Arg712=
NM_001382700.1:c.3289C= NP_001369629.1:p.Arg1097=
NM_001382701.1:c.3004C= NP_001369630.1:p.Arg1002=
NM_001382702.1:c.1471C= NP_001369631.1:p.Arg491=
NR_168483.1:n.2234C=