Canonical Allele Identifier: CA400548704
Gene: ACE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63482467A>C , CM000679.2:g.63482467A>C GRCh38
NC_000017.10:g.61559828A>C , CM000679.1:g.61559828A>C GRCh37
NC_000017.9:g.58913560A>C NCBI36
NG_011648.1:g.10395A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.1120A>C MANE Select ENSP00000290866.4:p.Ile374Leu
ENST00000290866.9:c.1120A>C ENSP00000290866.4:p.Ile374Leu
ENST00000428043.5:c.1120A>C ENSP00000397593.2:p.Ile374Leu
ENST00000582678.5:c.*519A>C ENSP00000462995.1:n.*519A>C
ENST00000584529.5:n.1154A>C
NM_000789.3:c.1120A>C NP_000780.1:p.Ile374Leu
XM_005257110.1:c.571A>C XP_005257167.1:p.Ile191Leu
NM_000789.4:c.1120A>C MANE Select NP_000780.1:p.Ile374Leu
NM_001382700.1:c.553A>C NP_001369629.1:p.Ile185Leu
NM_001382701.1:c.268A>C NP_001369630.1:p.Ile90Leu