Canonical Allele Identifier: CA250073523
Gene: NEK5 HGNC NCBI
ALG11 HGNC NCBI

Linked Data

dbSNP Id: rs11843436
MyVariant Identifiers: chr13:g.52609335A>T (hg19) chr13:g.52035199A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52035199A>T , CM000675.2:g.52035199A>T GRCh38
NC_000013.10:g.52609335A>T , CM000675.1:g.52609335A>T GRCh37
NC_000013.9:g.51507336A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647945.2:c.*1749T>A (NEK5) ENSP00000497892.1:n.*1749T>A
ENST00000684899.1:c.*1749T>A (NEK5) MANE Select ENSP00000509632.1:n.*1749T>A
ENST00000649708.2:c.275+16056A>T (ALG11) ENSP00000497459.2:n.275+16056A>T
ENST00000652502.1:n.3911T>A (NEK5)
ENST00000679495.1:n.44+22737A>T (ALG11)
ENST00000529080.5:n.2452T>A (NEK5)
NM_001365552.1:c.*1749T>A (NEK5) MANE Select NP_001352481.1:n.*1749T>A
Search 100 bp 5'
Search 100 bp 3'