Canonical Allele Identifier: CA956031247

Gene: NEK5 ALG11

Linked Data

• dbSNP Id: rs1438639134
• gnomAD v3: 13-52035088-A-T
• gnomAD v4: 13-52035088-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52035088A>T , CM000675.2:g.52035088A>T	GRCh38
NC_000013.10:g.52609224A>T , CM000675.1:g.52609224A>T	GRCh37
NC_000013.9:g.51507225A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647945.2:c.*1860T>A (NEK5)	ENSP00000497892.1:n.*1860T>A
ENST00000684899.1:c.*1860T>A (NEK5) MANE Select	ENSP00000509632.1:n.*1860T>A
ENST00000649708.2:c.275+15945A>T (ALG11)	ENSP00000497459.2:n.275+15945A>T
ENST00000652502.1:n.4022T>A (NEK5)
ENST00000679495.1:n.44+22626A>T (ALG11)
ENST00000529080.5:n.2563T>A (NEK5)
NM_001365552.1:c.*1860T>A (NEK5) MANE Select	NP_001352481.1:n.*1860T>A