Canonical Allele Identifier: CA2269943934
Community Standard Title: NM_000789.4(ACE):c.1922-288C=
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63484948C= , CM000679.2:g.63484948C= GRCh38
NC_000017.10:g.61562309C= , CM000679.1:g.61562309C= GRCh37
NC_000017.9:g.58916041C= NCBI36
NG_011648.1:g.12876C=

Transcript Alleles

HGVS Amino-acid Change
NM_000789.4:c.1922-288C= MANE Select NP_000780.1:n.1922-288C=
ENST00000290866.10:c.1922-288C= MANE Select ENSP00000290866.4:n.1922-288C=
NM_000789.3:c.1922-288C= NP_000780.1:n.1922-288C=
NM_001178057.1:c.81C= NP_001171528.1:p.Pro27=
NM_001178057.2:c.81C= NP_001171528.1:p.Pro27=
NM_001382700.1:c.1355-288C= NP_001369629.1:n.1355-288C=
NM_001382701.1:c.1070-288C= NP_001369630.1:n.1070-288C=
NM_001382702.1:c.-171C= NP_001369631.1:n.-171C=
NM_152830.2:c.81C= NP_690043.1:p.Pro27=
NM_152830.3:c.81C= NP_690043.1:p.Pro27=
NR_168483.1:n.103C=
ENST00000290863.10:c.81C= ENSP00000290863.6:p.Pro27=
ENST00000290866.9:c.1922-288C= ENSP00000290866.4:n.1922-288C=
ENST00000413513.7:c.81C= ENSP00000392247.3:p.Pro27=
ENST00000428043.5:c.1922-288C= ENSP00000397593.2:n.1922-288C=
ENST00000577647.2:c.81C= ENSP00000464149.1:p.Pro27=
ENST00000578839.5:c.81C= ENSP00000462110.2:p.Pro27=
ENST00000579204.1:c.81C= ENSP00000464629.1:p.Pro27=
ENST00000579314.5:c.81C= ENSP00000462599.1:p.Pro27=
ENST00000579726.5:c.205-22C=
ENST00000582005.5:c.81C= ENSP00000462002.1:p.Pro27=
ENST00000582678.5:c.*1321-288C= ENSP00000462995.1:n.*1321-288C=
XM_005257110.1:c.1373-288C= XP_005257167.1:n.1373-288C=
XM_006721737.2:c.238C= XP_006721800.2:p.Gln80=
XM_006721737.3:c.238C= XP_006721800.2:p.Gln80=