Canonical Allele Identifier: CA8699033
Gene: ACE HGNC NCBI

Linked Data

ClinVar Variation Id: 2108202
ClinVar RCV Id: RCV003034049
dbSNP Id: rs760310248

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63478088A>C , CM000679.2:g.63478088A>C GRCh38
NC_000017.10:g.61555449A>C , CM000679.1:g.61555449A>C GRCh37
NC_000017.9:g.58909181A>C NCBI36
NG_011648.1:g.6016A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.407A>C MANE Select ENSP00000290866.4:p.Lys136Thr
ENST00000290866.9:c.407A>C ENSP00000290866.4:p.Lys136Thr
ENST00000428043.5:c.407A>C ENSP00000397593.2:p.Lys136Thr
ENST00000579462.1:n.432A>C
ENST00000580318.1:n.596A>C
ENST00000582627.1:c.407A>C ENSP00000462280.1:p.Lys136Thr
ENST00000582678.5:c.407A>C ENSP00000462995.1:p.Lys136Thr
ENST00000583336.5:n.441A>C
ENST00000584529.5:n.441A>C
NM_000789.3:c.407A>C NP_000780.1:p.Lys136Thr
XM_005257110.1:c.-49A>C XP_005257167.1:n.-49A>C
NM_000789.4:c.407A>C MANE Select NP_000780.1:p.Lys136Thr
NM_001382700.1:c.172A>C NP_001369629.1:p.Ser58Arg
NM_001382701.1:c.-208A>C NP_001369630.1:n.-208A>C