Canonical Allele Identifier: CA14438265
Gene: ACE HGNC NCBI

Linked Data

ClinVar Variation Id: 1263928
ClinVar RCV Id: RCV001674922
dbSNP Id: rs4311

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63483402T>C , CM000679.2:g.63483402T>C GRCh38
NC_000017.10:g.61560763T>C , CM000679.1:g.61560763T>C GRCh37
NC_000017.9:g.58914495T>C NCBI36
NG_011648.1:g.11330T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290866.10:c.1488-58T>C MANE Select ENSP00000290866.4:p.=
ENST00000290866.9:c.1488-58T>C ENSP00000290866.4:p.=
ENST00000428043.5:c.1488-58T>C ENSP00000397593.2:p.=
ENST00000582678.5:c.*887-58T>C ENSP00000462995.1:p.=
ENST00000584529.5:n.1377-58T>C
NM_000789.3:c.1488-58T>C NP_000780.1:p.=
XM_005257110.1:c.939-58T>C XP_005257167.1:p.=
NM_000789.4:c.1488-58T>C MANE Select NP_000780.1:p.=
NM_001382700.1:c.921-58T>C NP_001369629.1:p.=
NM_001382701.1:c.636-58T>C NP_001369630.1:p.=