Canonical Allele Identifier: CA400540859
Gene: ACE HGNC NCBI

Linked Data

dbSNP Id: rs1291179724

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63478070C>T , CM000679.2:g.63478070C>T GRCh38
NC_000017.10:g.61555431C>T , CM000679.1:g.61555431C>T GRCh37
NC_000017.9:g.58909163C>T NCBI36
NG_011648.1:g.5998C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.389C>T MANE Select ENSP00000290866.4:p.Ala130Val
ENST00000290866.9:c.389C>T ENSP00000290866.4:p.Ala130Val
ENST00000428043.5:c.389C>T ENSP00000397593.2:p.Ala130Val
ENST00000579462.1:n.414C>T
ENST00000580318.1:n.578C>T
ENST00000582627.1:c.389C>T ENSP00000462280.1:p.Ala130Val
ENST00000582678.5:c.389C>T ENSP00000462995.1:p.Ala130Val
ENST00000583336.5:n.423C>T
ENST00000584529.5:n.423C>T
NM_000789.3:c.389C>T NP_000780.1:p.Ala130Val
XM_005257110.1:c.-67C>T XP_005257167.1:n.-67C>T
NM_000789.4:c.389C>T MANE Select NP_000780.1:p.Ala130Val
NM_001382700.1:c.154C>T NP_001369629.1:p.Pro52Ser
NM_001382701.1:c.-226C>T NP_001369630.1:n.-226C>T