Canonical Allele Identifier: CA2269949983
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497169C= , CM000679.2:g.63497169C= GRCh38
NC_000017.10:g.61574530C= , CM000679.1:g.61574530C= GRCh37
NC_000017.9:g.58928262C= NCBI36
NG_011648.1:g.25097C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3724C= MANE Select ENSP00000290866.4:p.Arg1242=
ENST00000290863.10:c.2002C= ENSP00000290863.6:p.Arg668=
ENST00000290866.9:c.3724C= ENSP00000290866.4:p.Arg1242=
ENST00000413513.7:c.1879C= ENSP00000392247.3:p.Arg627=
ENST00000428043.5:c.*146C= ENSP00000397593.2:n.*146C=
ENST00000577647.2:c.1969+184C= ENSP00000464149.1:n.1969+184C=
ENST00000578839.5:c.*1479C= ENSP00000462110.2:n.*1479C=
ENST00000579314.5:c.*1453C= ENSP00000462599.1:n.*1453C=
NM_000789.3:c.3724C= NP_000780.1:p.Arg1242=
NM_001178057.1:c.1879C= NP_001171528.1:p.Arg627=
NM_152830.2:c.2002C= NP_690043.1:p.Arg668=
XM_005257110.1:c.3175C= XP_005257167.1:p.Arg1059=
XM_006721737.2:c.2062C= XP_006721800.2:p.Arg688=
XM_006721737.3:c.2062C= XP_006721800.2:p.Arg688=
NM_000789.4:c.3724C= MANE Select NP_000780.1:p.Arg1242=
NM_001178057.2:c.1879C= NP_001171528.1:p.Arg627=
NM_152830.3:c.2002C= NP_690043.1:p.Arg668=
NM_001382700.1:c.3157C= NP_001369629.1:p.Arg1053=
NM_001382701.1:c.2872C= NP_001369630.1:p.Arg958=
NM_001382702.1:c.1339C= NP_001369631.1:p.Arg447=
NR_168483.1:n.2102C=