Canonical Allele Identifier: CA400569124
Gene: ACE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497278A>T , CM000679.2:g.63497278A>T GRCh38
NC_000017.10:g.61574639A>T , CM000679.1:g.61574639A>T GRCh37
NC_000017.9:g.58928371A>T NCBI36
NG_011648.1:g.25206A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3833A>T MANE Select ENSP00000290866.4:p.Gln1278Leu
ENST00000290863.10:c.2111A>T ENSP00000290863.6:p.Gln704Leu
ENST00000290866.9:c.3833A>T ENSP00000290866.4:p.Gln1278Leu
ENST00000413513.7:c.1988A>T ENSP00000392247.3:p.Gln663Leu
ENST00000428043.5:c.*255A>T ENSP00000397593.2:n.*255A>T
ENST00000577647.2:c.1969+293A>T ENSP00000464149.1:n.1969+293A>T
ENST00000578839.5:c.*1588A>T ENSP00000462110.2:n.*1588A>T
ENST00000579314.5:c.*1562A>T ENSP00000462599.1:n.*1562A>T
NM_000789.3:c.3833A>T NP_000780.1:p.Gln1278Leu
NM_001178057.1:c.1988A>T NP_001171528.1:p.Gln663Leu
NM_152830.2:c.2111A>T NP_690043.1:p.Gln704Leu
XM_005257110.1:c.3284A>T XP_005257167.1:p.Gln1095Leu
XM_006721737.2:c.2171A>T XP_006721800.2:p.Gln724Leu
XM_006721737.3:c.2171A>T XP_006721800.2:p.Gln724Leu
NM_000789.4:c.3833A>T MANE Select NP_000780.1:p.Gln1278Leu
NM_001178057.2:c.1988A>T NP_001171528.1:p.Gln663Leu
NM_152830.3:c.2111A>T NP_690043.1:p.Gln704Leu
NM_001382700.1:c.3266A>T NP_001369629.1:p.Gln1089Leu
NM_001382701.1:c.2981A>T NP_001369630.1:p.Gln994Leu
NM_001382702.1:c.1448A>T NP_001369631.1:p.Gln483Leu
NR_168483.1:n.2211A>T