Canonical Allele Identifier: CA250073395
Gene: NEK5 HGNC NCBI
ALG11 HGNC NCBI

Linked Data

dbSNP Id: rs988584343
gnomAD v4: 13-52034978-C-A
MyVariant Identifiers: chr13:g.52609114C>A (hg19) chr13:g.52034978C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52034978C>A , CM000675.2:g.52034978C>A GRCh38
NC_000013.10:g.52609114C>A , CM000675.1:g.52609114C>A GRCh37
NC_000013.9:g.51507115C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000647945.2:c.*1970G>T (NEK5) ENSP00000497892.1:n.*1970G>T
ENST00000684899.1:c.*1970G>T (NEK5) MANE Select ENSP00000509632.1:n.*1970G>T
ENST00000649708.2:c.275+15835C>A (ALG11) ENSP00000497459.2:n.275+15835C>A
ENST00000652502.1:n.4132G>T (NEK5)
ENST00000679495.1:n.44+22516C>A (ALG11)
ENST00000529080.5:n.2673G>T (NEK5)
NM_001365552.1:c.*1970G>T (NEK5) MANE Select NP_001352481.1:n.*1970G>T
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