Canonical Allele Identifier: CA2091591519

Linked Data

dbSNP Id: rs1954348345

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52035078A>G , CM000675.2:g.52035078A>G GRCh38
NC_000013.10:g.52609214A>G , CM000675.1:g.52609214A>G GRCh37
NC_000013.9:g.51507215A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647945.2:c.*1870T>C (NEK5) ENSP00000497892.1:n.*1870T>C
ENST00000684899.1:c.*1870T>C (NEK5) MANE Select ENSP00000509632.1:n.*1870T>C
ENST00000649708.2:c.275+15935A>G (ALG11) ENSP00000497459.2:n.275+15935A>G
ENST00000652502.1:n.4032T>C (NEK5)
ENST00000679495.1:n.44+22616A>G (ALG11)
ENST00000529080.5:n.2573T>C (NEK5)
NM_001365552.1:c.*1870T>C (NEK5) MANE Select NP_001352481.1:n.*1870T>C