Canonical Allele Identifier: CA8699037
Gene: ACE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 424033
ClinVar RCV Id: RCV000481663
dbSNP Id: rs779422412

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63478093C>T , CM000679.2:g.63478093C>T GRCh38
NC_000017.10:g.61555454C>T , CM000679.1:g.61555454C>T GRCh37
NC_000017.9:g.58909186C>T NCBI36
NG_011648.1:g.6021C>T

Transcript Alleles

HGVS Amino-acid change
NM_000789.3:c.412C>T VV NP_000780.1:p.Gln138Ter
XM_005257110.1:c.-44C>T XP_005257167.1:p.=
NM_000789.4:c.412C>T VV MANE Preferred
ENST00000290866.9:c.412C>T ENSP00000290866.4:p.Gln138Ter
ENST00000428043.5:c.412C>T ENSP00000397593.2:p.Gln138Ter
ENST00000579462.1:n.437C>T
ENST00000580318.1:n.601C>T
ENST00000582627.1:c.412C>T ENSP00000462280.1:p.Gln138Ter
ENST00000582678.5:c.412C>T ENSP00000462995.1:p.Gln138Ter
ENST00000583336.5:n.446C>T
ENST00000584529.5:n.446C>T