Canonical Allele Identifier: CA698971255

Gene: NEK5 ALG11

Linked Data

• dbSNP Id: rs1378336313
• MyVariant Identifiers: chr13:g.52609281T>G (hg19) ; chr13:g.52035145T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52035145T>G , CM000675.2:g.52035145T>G	GRCh38
NC_000013.10:g.52609281T>G , CM000675.1:g.52609281T>G	GRCh37
NC_000013.9:g.51507282T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647945.2:c.*1803A>C (NEK5)	ENSP00000497892.1:n.*1803A>C
ENST00000684899.1:c.*1803A>C (NEK5) MANE Select	ENSP00000509632.1:n.*1803A>C
ENST00000649708.2:c.275+16002T>G (ALG11)	ENSP00000497459.2:n.275+16002T>G
ENST00000652502.1:n.3965A>C (NEK5)
ENST00000679495.1:n.44+22683T>G (ALG11)
ENST00000529080.5:n.2506A>C (NEK5)
NM_001365552.1:c.*1803A>C (NEK5) MANE Select	NP_001352481.1:n.*1803A>C