Canonical Allele Identifier: CA2269949988
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497178T= , CM000679.2:g.63497178T= GRCh38
NC_000017.10:g.61574539T= , CM000679.1:g.61574539T= GRCh37
NC_000017.9:g.58928271T= NCBI36
NG_011648.1:g.25106T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3733T= MANE Select ENSP00000290866.4:p.Phe1245=
ENST00000290863.10:c.2011T= ENSP00000290863.6:p.Phe671=
ENST00000290866.9:c.3733T= ENSP00000290866.4:p.Phe1245=
ENST00000413513.7:c.1888T= ENSP00000392247.3:p.Phe630=
ENST00000428043.5:c.*155T= ENSP00000397593.2:n.*155T=
ENST00000577647.2:c.1969+193T= ENSP00000464149.1:n.1969+193T=
ENST00000578839.5:c.*1488T= ENSP00000462110.2:n.*1488T=
ENST00000579314.5:c.*1462T= ENSP00000462599.1:n.*1462T=
NM_000789.3:c.3733T= NP_000780.1:p.Phe1245=
NM_001178057.1:c.1888T= NP_001171528.1:p.Phe630=
NM_152830.2:c.2011T= NP_690043.1:p.Phe671=
XM_005257110.1:c.3184T= XP_005257167.1:p.Phe1062=
XM_006721737.2:c.2071T= XP_006721800.2:p.Phe691=
XM_006721737.3:c.2071T= XP_006721800.2:p.Phe691=
NM_000789.4:c.3733T= MANE Select NP_000780.1:p.Phe1245=
NM_001178057.2:c.1888T= NP_001171528.1:p.Phe630=
NM_152830.3:c.2011T= NP_690043.1:p.Phe671=
NM_001382700.1:c.3166T= NP_001369629.1:p.Phe1056=
NM_001382701.1:c.2881T= NP_001369630.1:p.Phe961=
NM_001382702.1:c.1348T= NP_001369631.1:p.Phe450=
NR_168483.1:n.2111T=