Canonical Allele Identifier: CA2269950040
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497295C= , CM000679.2:g.63497295C= GRCh38
NC_000017.10:g.61574656C= , CM000679.1:g.61574656C= GRCh37
NC_000017.9:g.58928388C= NCBI36
NG_011648.1:g.25223C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3850C= MANE Select ENSP00000290866.4:p.Arg1284=
ENST00000290863.10:c.2128C= ENSP00000290863.6:p.Arg710=
ENST00000290866.9:c.3850C= ENSP00000290866.4:p.Arg1284=
ENST00000413513.7:c.2005C= ENSP00000392247.3:p.Arg669=
ENST00000428043.5:c.*272C= ENSP00000397593.2:n.*272C=
ENST00000577647.2:c.1969+310C= ENSP00000464149.1:n.1969+310C=
ENST00000578839.5:c.*1605C= ENSP00000462110.2:n.*1605C=
ENST00000579314.5:c.*1579C= ENSP00000462599.1:n.*1579C=
NM_000789.3:c.3850C= NP_000780.1:p.Arg1284=
NM_001178057.1:c.2005C= NP_001171528.1:p.Arg669=
NM_152830.2:c.2128C= NP_690043.1:p.Arg710=
XM_005257110.1:c.3301C= XP_005257167.1:p.Arg1101=
XM_006721737.2:c.2188C= XP_006721800.2:p.Arg730=
XM_006721737.3:c.2188C= XP_006721800.2:p.Arg730=
NM_000789.4:c.3850C= MANE Select NP_000780.1:p.Arg1284=
NM_001178057.2:c.2005C= NP_001171528.1:p.Arg669=
NM_152830.3:c.2128C= NP_690043.1:p.Arg710=
NM_001382700.1:c.3283C= NP_001369629.1:p.Arg1095=
NM_001382701.1:c.2998C= NP_001369630.1:p.Arg1000=
NM_001382702.1:c.1465C= NP_001369631.1:p.Arg489=
NR_168483.1:n.2228C=