Canonical Allele Identifier: CA400540853
Gene: ACE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63478067C>G , CM000679.2:g.63478067C>G GRCh38
NC_000017.10:g.61555428C>G , CM000679.1:g.61555428C>G GRCh37
NC_000017.9:g.58909160C>G NCBI36
NG_011648.1:g.5995C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.386C>G MANE Select ENSP00000290866.4:p.Ser129Cys
ENST00000290866.9:c.386C>G ENSP00000290866.4:p.Ser129Cys
ENST00000428043.5:c.386C>G ENSP00000397593.2:p.Ser129Cys
ENST00000579462.1:n.411C>G
ENST00000580318.1:n.575C>G
ENST00000582627.1:c.386C>G ENSP00000462280.1:p.Ser129Cys
ENST00000582678.5:c.386C>G ENSP00000462995.1:p.Ser129Cys
ENST00000583336.5:n.420C>G
ENST00000584529.5:n.420C>G
NM_000789.3:c.386C>G NP_000780.1:p.Ser129Cys
XM_005257110.1:c.-70C>G XP_005257167.1:n.-70C>G
NM_000789.4:c.386C>G MANE Select NP_000780.1:p.Ser129Cys
NM_001382700.1:c.151C>G NP_001369629.1:p.Leu51Val
NM_001382701.1:c.-229C>G NP_001369630.1:n.-229C>G