Canonical Allele Identifier: CA698971185
Gene: NEK5 HGNC NCBI
ALG11 HGNC NCBI

Linked Data

dbSNP Id: rs1315620975
gnomAD v3: 13-52034973-C-T
gnomAD v4: 13-52034973-C-T
MyVariant Identifiers: chr13:g.52609109C>T (hg19) chr13:g.52034973C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52034973C>T , CM000675.2:g.52034973C>T GRCh38
NC_000013.10:g.52609109C>T , CM000675.1:g.52609109C>T GRCh37
NC_000013.9:g.51507110C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000647945.2:c.*1975G>A (NEK5) ENSP00000497892.1:n.*1975G>A
ENST00000684899.1:c.*1975G>A (NEK5) MANE Select ENSP00000509632.1:n.*1975G>A
ENST00000649708.2:c.275+15830C>T (ALG11) ENSP00000497459.2:n.275+15830C>T
ENST00000652502.1:n.4137G>A (NEK5)
ENST00000679495.1:n.44+22511C>T (ALG11)
ENST00000529080.5:n.2678G>A (NEK5)
NM_001365552.1:c.*1975G>A (NEK5) MANE Select NP_001352481.1:n.*1975G>A
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