Canonical Allele Identifier: CA8700666
Gene: ACE HGNC NCBI

Linked Data

ClinVar Variation Id: 324420
dbSNP Id: rs144242912

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497246C>T , CM000679.2:g.63497246C>T GRCh38
NC_000017.10:g.61574607C>T , CM000679.1:g.61574607C>T GRCh37
NC_000017.9:g.58928339C>T NCBI36
NG_011648.1:g.25174C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3801C>T MANE Select ENSP00000290866.4:p.Ile1267=
ENST00000290863.10:c.2079C>T ENSP00000290863.6:p.Ile693=
ENST00000290866.9:c.3801C>T ENSP00000290866.4:p.Ile1267=
ENST00000413513.7:c.1956C>T ENSP00000392247.3:p.Ile652=
ENST00000428043.5:c.*223C>T ENSP00000397593.2:n.*223C>T
ENST00000577647.2:c.1969+261C>T ENSP00000464149.1:n.1969+261C>T
ENST00000578839.5:c.*1556C>T ENSP00000462110.2:n.*1556C>T
ENST00000579314.5:c.*1530C>T ENSP00000462599.1:n.*1530C>T
NM_000789.3:c.3801C>T NP_000780.1:p.Ile1267=
NM_001178057.1:c.1956C>T NP_001171528.1:p.Ile652=
NM_152830.2:c.2079C>T NP_690043.1:p.Ile693=
XM_005257110.1:c.3252C>T XP_005257167.1:p.Ile1084=
XM_006721737.2:c.2139C>T XP_006721800.2:p.Ile713=
XM_006721737.3:c.2139C>T XP_006721800.2:p.Ile713=
NM_000789.4:c.3801C>T MANE Select NP_000780.1:p.Ile1267=
NM_001178057.2:c.1956C>T NP_001171528.1:p.Ile652=
NM_152830.3:c.2079C>T NP_690043.1:p.Ile693=
NM_001382700.1:c.3234C>T NP_001369629.1:p.Ile1078=
NM_001382701.1:c.2949C>T NP_001369630.1:p.Ile983=
NM_001382702.1:c.1416C>T NP_001369631.1:p.Ile472=
NR_168483.1:n.2179C>T