Canonical Allele Identifier: CA250073426

Gene: NEK5 ALG11

Linked Data

• dbSNP Id: rs925555003
• gnomAD v2: 13-52609192-C-T
• gnomAD v3: 13-52035056-C-T
• gnomAD v4: 13-52035056-C-T
• MyVariant Identifiers: chr13:g.52609192C>T (hg19) ; chr13:g.52035056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52035056C>T , CM000675.2:g.52035056C>T	GRCh38
NC_000013.10:g.52609192C>T , CM000675.1:g.52609192C>T	GRCh37
NC_000013.9:g.51507193C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647945.2:c.*1892G>A (NEK5)	ENSP00000497892.1:n.*1892G>A
ENST00000684899.1:c.*1892G>A (NEK5) MANE Select	ENSP00000509632.1:n.*1892G>A
ENST00000649708.2:c.275+15913C>T (ALG11)	ENSP00000497459.2:n.275+15913C>T
ENST00000652502.1:n.4054G>A (NEK5)
ENST00000679495.1:n.44+22594C>T (ALG11)
ENST00000529080.5:n.2595G>A (NEK5)
NM_001365552.1:c.*1892G>A (NEK5) MANE Select	NP_001352481.1:n.*1892G>A