Canonical Allele Identifier: CA400540783
Gene: ACE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63478029G>C , CM000679.2:g.63478029G>C GRCh38
NC_000017.10:g.61555390G>C , CM000679.1:g.61555390G>C GRCh37
NC_000017.9:g.58909122G>C NCBI36
NG_011648.1:g.5957G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.348G>C MANE Select ENSP00000290866.4:p.Gln116His
ENST00000290866.9:c.348G>C ENSP00000290866.4:p.Gln116His
ENST00000428043.5:c.348G>C ENSP00000397593.2:p.Gln116His
ENST00000579462.1:n.373G>C
ENST00000580318.1:n.537G>C
ENST00000582627.1:c.348G>C ENSP00000462280.1:p.Gln116His
ENST00000582678.5:c.348G>C ENSP00000462995.1:p.Gln116His
ENST00000583336.5:n.382G>C
ENST00000584529.5:n.382G>C
NM_000789.3:c.348G>C NP_000780.1:p.Gln116His
XM_005257110.1:c.-108G>C XP_005257167.1:n.-108G>C
NM_000789.4:c.348G>C MANE Select NP_000780.1:p.Gln116His
NM_001382700.1:c.113G>C NP_001369629.1:p.Ser38Thr
NM_001382701.1:c.-267G>C NP_001369630.1:n.-267G>C