Canonical Allele Identifier: CA400548820
Gene: ACE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63482480C>T , CM000679.2:g.63482480C>T GRCh38
NC_000017.10:g.61559841C>T , CM000679.1:g.61559841C>T GRCh37
NC_000017.9:g.58913573C>T NCBI36
NG_011648.1:g.10408C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.1133C>T MANE Select ENSP00000290866.4:p.Thr378Ile
ENST00000290866.9:c.1133C>T ENSP00000290866.4:p.Thr378Ile
ENST00000428043.5:c.1133C>T ENSP00000397593.2:p.Thr378Ile
ENST00000582678.5:c.*532C>T ENSP00000462995.1:n.*532C>T
ENST00000584529.5:n.1167C>T
NM_000789.3:c.1133C>T NP_000780.1:p.Thr378Ile
XM_005257110.1:c.584C>T XP_005257167.1:p.Thr195Ile
NM_000789.4:c.1133C>T MANE Select NP_000780.1:p.Thr378Ile
NM_001382700.1:c.566C>T NP_001369629.1:p.Thr189Ile
NM_001382701.1:c.281C>T NP_001369630.1:p.Thr94Ile