Canonical Allele Identifier: CA250073426

Linked Data

dbSNP Id: rs925555003

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