Canonical Allele Identifier: CA2269950037
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497288C= , CM000679.2:g.63497288C= GRCh38
NC_000017.10:g.61574649C= , CM000679.1:g.61574649C= GRCh37
NC_000017.9:g.58928381C= NCBI36
NG_011648.1:g.25216C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3843C= MANE Select ENSP00000290866.4:p.Phe1281=
ENST00000290863.10:c.2121C= ENSP00000290863.6:p.Phe707=
ENST00000290866.9:c.3843C= ENSP00000290866.4:p.Phe1281=
ENST00000413513.7:c.1998C= ENSP00000392247.3:p.Phe666=
ENST00000428043.5:c.*265C= ENSP00000397593.2:n.*265C=
ENST00000577647.2:c.1969+303C= ENSP00000464149.1:n.1969+303C=
ENST00000578839.5:c.*1598C= ENSP00000462110.2:n.*1598C=
ENST00000579314.5:c.*1572C= ENSP00000462599.1:n.*1572C=
NM_000789.3:c.3843C= NP_000780.1:p.Phe1281=
NM_001178057.1:c.1998C= NP_001171528.1:p.Phe666=
NM_152830.2:c.2121C= NP_690043.1:p.Phe707=
XM_005257110.1:c.3294C= XP_005257167.1:p.Phe1098=
XM_006721737.2:c.2181C= XP_006721800.2:p.Phe727=
XM_006721737.3:c.2181C= XP_006721800.2:p.Phe727=
NM_000789.4:c.3843C= MANE Select NP_000780.1:p.Phe1281=
NM_001178057.2:c.1998C= NP_001171528.1:p.Phe666=
NM_152830.3:c.2121C= NP_690043.1:p.Phe707=
NM_001382700.1:c.3276C= NP_001369629.1:p.Phe1092=
NM_001382701.1:c.2991C= NP_001369630.1:p.Phe997=
NM_001382702.1:c.1458C= NP_001369631.1:p.Phe486=
NR_168483.1:n.2221C=