Canonical Allele Identifier: CA8700063
Gene: ACE HGNC NCBI

Linked Data

ClinVar Variation Id: 256803
dbSNP Id: rs4343

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63488670G>A , CM000679.2:g.63488670G>A GRCh38
NC_000017.10:g.61566031G>A , CM000679.1:g.61566031G>A GRCh37
NC_000017.9:g.58919763G>A NCBI36
NG_011648.1:g.16598G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290866.10:c.2328G>A MANE Select ENSP00000290866.4:p.Thr776=
ENST00000290863.10:c.606G>A ENSP00000290863.6:p.Thr202=
ENST00000290866.9:c.2328G>A ENSP00000290866.4:p.Thr776=
ENST00000413513.7:c.606G>A ENSP00000392247.3:p.Thr202=
ENST00000428043.5:c.2328G>A ENSP00000397593.2:p.Thr776=
ENST00000577647.2:c.606G>A ENSP00000464149.1:p.Thr202=
ENST00000578839.5:c.*398G>A ENSP00000462110.2:n.*398G>A
ENST00000579204.1:n.587G>A ENSP00000464629.1:n.587G>A
ENST00000579314.5:c.*57G>A ENSP00000462599.1:n.*57G>A
ENST00000582005.5:c.*248G>A ENSP00000462002.1:n.*248G>A
ENST00000582761.1:n.96G>A ENSP00000462909.1:p.Thr32=
ENST00000584865.5:n.274G>A
NM_000789.3:c.2328G>A NP_000780.1:p.Thr776=
NM_001178057.1:c.606G>A NP_001171528.1:p.Thr202=
NM_152830.2:c.606G>A NP_690043.1:p.Thr202=
XM_005257110.1:c.1779G>A XP_005257167.1:p.Thr593=
XM_006721737.2:c.666G>A XP_006721800.2:p.Thr222=
XM_006721737.3:c.666G>A XP_006721800.2:p.Thr222=
NM_000789.4:c.2328G>A MANE Select NP_000780.1:p.Thr776=
NM_001178057.2:c.606G>A NP_001171528.1:p.Thr202=
NM_152830.3:c.606G>A NP_690043.1:p.Thr202=
NM_001382700.1:c.1761G>A NP_001369629.1:p.Thr587=
NM_001382701.1:c.1476G>A NP_001369630.1:p.Thr492=
NM_001382702.1:c.258G>A NP_001369631.1:p.Thr86=
NR_168483.1:n.706G>A