Canonical Allele Identifier: CA321324355
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2860867
ClinVar RCV Id: RCV003752465
dbSNP Id: rs530672317
MyVariant Identifiers: chr21:g.43416898C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416898C>T , CM000683.2:g.43416898C>T GRCh38
NG_052009.1:g.15235G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2196G>A MANE Select ENSP00000270162.6:p.Leu732=
ENST00000270162.6:c.2196G>A ENSP00000270162.6:p.Leu732=
NM_173354.3:c.2196G>A NP_775490.2:p.Leu732=
XM_011529474.1:c.2049G>A XP_011527776.1:p.Leu683=
NM_173354.4:c.2196G>A NP_775490.2:p.Leu732=
XM_011529474.2:c.2049G>A XP_011527776.1:p.Leu683=
NM_173354.5:c.2196G>A MANE Select NP_775490.2:p.Leu732=
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