Canonical Allele Identifier: CA2639241488
Gene: ACE HGNC NCBI

Linked Data

gnomAD v4: 17-63483409-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63483409C>A , CM000679.2:g.63483409C>A GRCh38
NC_000017.10:g.61560770C>A , CM000679.1:g.61560770C>A GRCh37
NC_000017.9:g.58914502C>A NCBI36
NG_011648.1:g.11337C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290866.10:c.1488-51C>A MANE Select ENSP00000290866.4:n.1488-51C>A
ENST00000290866.9:c.1488-51C>A ENSP00000290866.4:n.1488-51C>A
ENST00000428043.5:c.1488-51C>A ENSP00000397593.2:n.1488-51C>A
ENST00000582678.5:c.*887-51C>A ENSP00000462995.1:n.*887-51C>A
ENST00000584529.5:n.1377-51C>A
NM_000789.3:c.1488-51C>A NP_000780.1:n.1488-51C>A
XM_005257110.1:c.939-51C>A XP_005257167.1:n.939-51C>A
NM_000789.4:c.1488-51C>A MANE Select NP_000780.1:n.1488-51C>A
NM_001382700.1:c.921-51C>A NP_001369629.1:n.921-51C>A
NM_001382701.1:c.636-51C>A NP_001369630.1:n.636-51C>A
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