Canonical Allele Identifier: CA2269950030
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63497264C= , CM000679.2:g.63497264C= GRCh38
NC_000017.10:g.61574625C= , CM000679.1:g.61574625C= GRCh37
NC_000017.9:g.58928357C= NCBI36
NG_011648.1:g.25192C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.3819C= MANE Select ENSP00000290866.4:p.Thr1273=
ENST00000290863.10:c.2097C= ENSP00000290863.6:p.Thr699=
ENST00000290866.9:c.3819C= ENSP00000290866.4:p.Thr1273=
ENST00000413513.7:c.1974C= ENSP00000392247.3:p.Thr658=
ENST00000428043.5:c.*241C= ENSP00000397593.2:n.*241C=
ENST00000577647.2:c.1969+279C= ENSP00000464149.1:n.1969+279C=
ENST00000578839.5:c.*1574C= ENSP00000462110.2:n.*1574C=
ENST00000579314.5:c.*1548C= ENSP00000462599.1:n.*1548C=
NM_000789.3:c.3819C= NP_000780.1:p.Thr1273=
NM_001178057.1:c.1974C= NP_001171528.1:p.Thr658=
NM_152830.2:c.2097C= NP_690043.1:p.Thr699=
XM_005257110.1:c.3270C= XP_005257167.1:p.Thr1090=
XM_006721737.2:c.2157C= XP_006721800.2:p.Thr719=
XM_006721737.3:c.2157C= XP_006721800.2:p.Thr719=
NM_000789.4:c.3819C= MANE Select NP_000780.1:p.Thr1273=
NM_001178057.2:c.1974C= NP_001171528.1:p.Thr658=
NM_152830.3:c.2097C= NP_690043.1:p.Thr699=
NM_001382700.1:c.3252C= NP_001369629.1:p.Thr1084=
NM_001382701.1:c.2967C= NP_001369630.1:p.Thr989=
NM_001382702.1:c.1434C= NP_001369631.1:p.Thr478=
NR_168483.1:n.2197C=