Canonical Allele Identifier: CA143699
Gene: ACE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 50208
dbSNP Id: rs397514688

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63483172C>T , CM000679.2:g.63483172C>T GRCh38
NC_000017.10:g.61560533C>T , CM000679.1:g.61560533C>T GRCh37
NC_000017.9:g.58914265C>T NCBI36
NG_011648.1:g.11100C>T

Transcript Alleles

HGVS Amino-acid change
NM_000789.3:c.1486C>T VV NP_000780.1:p.Arg496Ter
XM_005257110.1:c.937C>T XP_005257167.1:p.Arg313Ter
NM_000789.4:c.1486C>T VV MANE Preferred NP_000780.1:p.Arg496Ter
ENST00000290866.9:c.1486C>T ENSP00000290866.4:p.Arg496Ter
ENST00000428043.5:c.1486C>T ENSP00000397593.2:p.Arg496Ter
ENST00000582678.5:c.*885C>T ENSP00000462995.1:p.=
ENST00000584529.5:n.1377-288C>T