Canonical Allele Identifier: CA250073497
Gene: NEK5 HGNC NCBI
ALG11 HGNC NCBI

Linked Data

dbSNP Id: rs1032930195
MyVariant Identifiers: chr13:g.52609265A>G (hg19) chr13:g.52035129A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52035129A>G , CM000675.2:g.52035129A>G GRCh38
NC_000013.10:g.52609265A>G , CM000675.1:g.52609265A>G GRCh37
NC_000013.9:g.51507266A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647945.2:c.*1819T>C (NEK5) ENSP00000497892.1:n.*1819T>C
ENST00000684899.1:c.*1819T>C (NEK5) MANE Select ENSP00000509632.1:n.*1819T>C
ENST00000649708.2:c.275+15986A>G (ALG11) ENSP00000497459.2:n.275+15986A>G
ENST00000652502.1:n.3981T>C (NEK5)
ENST00000679495.1:n.44+22667A>G (ALG11)
ENST00000529080.5:n.2522T>C (NEK5)
NM_001365552.1:c.*1819T>C (NEK5) MANE Select NP_001352481.1:n.*1819T>C
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