Canonical Allele Identifier: CA609964211
Gene: NEK5 HGNC NCBI
ALG11 HGNC NCBI

Linked Data

dbSNP Id: rs1465710983
gnomAD v2: 13-52609178-T-C
gnomAD v3: 13-52035042-T-C
gnomAD v4: 13-52035042-T-C
MyVariant Identifiers: chr13:g.52609178T>C (hg19) chr13:g.52035042T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52035042T>C , CM000675.2:g.52035042T>C GRCh38
NC_000013.10:g.52609178T>C , CM000675.1:g.52609178T>C GRCh37
NC_000013.9:g.51507179T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647945.2:c.*1906A>G (NEK5) ENSP00000497892.1:n.*1906A>G
ENST00000684899.1:c.*1906A>G (NEK5) MANE Select ENSP00000509632.1:n.*1906A>G
ENST00000649708.2:c.275+15899T>C (ALG11) ENSP00000497459.2:n.275+15899T>C
ENST00000652502.1:n.4068A>G (NEK5)
ENST00000679495.1:n.44+22580T>C (ALG11)
ENST00000529080.5:n.2609A>G (NEK5)
NM_001365552.1:c.*1906A>G (NEK5) MANE Select NP_001352481.1:n.*1906A>G
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