Canonical Allele Identifier: CA2603155588
Gene: CEP164 HGNC NCBI

Linked Data

gnomAD v3: 11-117317280-G-A
gnomAD v4: 11-117317280-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317280G>A , CM000673.2:g.117317280G>A GRCh38
NC_000011.9:g.117187996G>A , CM000673.1:g.117187996G>A GRCh37
NC_000011.8:g.116693206G>A NCBI36
NG_029372.1:g.3977C>T
NG_033032.1:g.503G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525734.5:c.-98+2552G>A ENSP00000436609.1:n.-98+2552G>A
XM_017017364.1:c.-98+747G>A XP_016872853.1:n.-98+747G>A
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