Canonical Allele Identifier: CA400548689
Gene: ACE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63482465G>C , CM000679.2:g.63482465G>C GRCh38
NC_000017.10:g.61559826G>C , CM000679.1:g.61559826G>C GRCh37
NC_000017.9:g.58913558G>C NCBI36
NG_011648.1:g.10393G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290866.10:c.1119-1G>C MANE Select ENSP00000290866.4:n.1119-1G>C
ENST00000290866.9:c.1119-1G>C ENSP00000290866.4:n.1119-1G>C
ENST00000428043.5:c.1119-1G>C ENSP00000397593.2:n.1119-1G>C
ENST00000582678.5:c.*518-1G>C ENSP00000462995.1:n.*518-1G>C
ENST00000584529.5:n.1153-1G>C
NM_000789.3:c.1119-1G>C NP_000780.1:n.1119-1G>C
XM_005257110.1:c.570-1G>C XP_005257167.1:n.570-1G>C
NM_000789.4:c.1119-1G>C MANE Select NP_000780.1:n.1119-1G>C
NM_001382700.1:c.551G>C NP_001369629.1:p.Arg184Thr
NM_001382701.1:c.267-1G>C NP_001369630.1:n.267-1G>C