Canonical Allele Identifier: CA8699649
Community Standard Title: NM_000789.4(ACE):c.1655G>A (p.Gly552Asp)
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63483917G>A , CM000679.2:g.63483917G>A GRCh38
NC_000017.10:g.61561278G>A , CM000679.1:g.61561278G>A GRCh37
NC_000017.9:g.58915010G>A NCBI36
NG_011648.1:g.11845G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000789.4:c.1655G>A MANE Select NP_000780.1:p.Gly552Asp
ENST00000290866.10:c.1655G>A MANE Select ENSP00000290866.4:p.Gly552Asp
NM_000789.3:c.1655G>A NP_000780.1:p.Gly552Asp
NM_001382700.1:c.1088G>A NP_001369629.1:p.Gly363Asp
NM_001382701.1:c.803G>A NP_001369630.1:p.Gly268Asp
ENST00000290866.9:c.1655G>A ENSP00000290866.4:p.Gly552Asp
ENST00000428043.5:c.1655G>A ENSP00000397593.2:p.Gly552Asp
ENST00000582678.5:c.*1054G>A ENSP00000462995.1:n.*1054G>A
XM_005257110.1:c.1106G>A XP_005257167.1:p.Gly369Asp