Canonical Allele Identifier: CA410606476
Gene: SIK1 HGNC NCBI

Linked Data

gnomAD v4: 21-43416901-G-T
MyVariant Identifiers: chr21:g.43416901G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416901G>T , CM000683.2:g.43416901G>T GRCh38
NG_052009.1:g.15232C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2193C>A MANE Select ENSP00000270162.6:p.His731Gln
ENST00000270162.6:c.2193C>A ENSP00000270162.6:p.His731Gln
NM_173354.3:c.2193C>A NP_775490.2:p.His731Gln
XM_011529474.1:c.2046C>A XP_011527776.1:p.His682Gln
NM_173354.4:c.2193C>A NP_775490.2:p.His731Gln
XM_011529474.2:c.2046C>A XP_011527776.1:p.His682Gln
NM_173354.5:c.2193C>A MANE Select NP_775490.2:p.His731Gln
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