Canonical Allele Identifier: CA14383517
Gene: ACE HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs4332

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63486920T>C , CM000679.2:g.63486920T>C GRCh38
NC_000017.10:g.61564281T>C , CM000679.1:g.61564281T>C GRCh37
NC_000017.9:g.58918013T>C NCBI36
NG_011648.1:g.14848T>C

Transcript Alleles

HGVS Amino-acid change
NM_000789.3:c.2218-66T>C VV NP_000780.1:p.=
NM_001178057.1:c.496-66T>C VV NP_001171528.1:p.=
NM_152830.2:c.496-66T>C VV NP_690043.1:p.=
XM_005257110.1:c.1669-66T>C XP_005257167.1:p.=
XM_006721737.2:c.556-66T>C XP_006721800.2:p.=
XM_006721737.3:c.556-66T>C
NM_000789.4:c.2218-66T>C VV MANE Preferred
ENST00000290863.10:c.496-66T>C ENSP00000290863.6:p.=
ENST00000290866.9:c.2218-66T>C ENSP00000290866.4:p.=
ENST00000413513.7:c.496-66T>C ENSP00000392247.3:p.=
ENST00000428043.5:c.2218-66T>C ENSP00000397593.2:p.=
ENST00000577647.2:c.496-66T>C ENSP00000464149.1:p.=
ENST00000578839.5:c.*288-66T>C ENSP00000462110.2:p.=
ENST00000579204.1:n.399-66T>C ENSP00000464629.1:p.=
ENST00000579314.5:c.496-66T>C ENSP00000462599.1:p.=
ENST00000579726.5:n.780-66T>C
ENST00000582005.5:c.*138-66T>C ENSP00000462002.1:p.=
ENST00000584865.5:n.98T>C