Canonical Allele Identifier: CA410606647
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 588437
ClinVar RCV Id: RCV002314526
dbSNP Id: rs1204878132
MyVariant Identifiers: chr21:g.43416990G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416990G>T , CM000683.2:g.43416990G>T GRCh38
NG_052009.1:g.15143C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2104C>A MANE Select ENSP00000270162.6:p.Leu702Ile
ENST00000270162.6:c.2104C>A ENSP00000270162.6:p.Leu702Ile
NM_173354.3:c.2104C>A NP_775490.2:p.Leu702Ile
XM_011529474.1:c.1957C>A XP_011527776.1:p.Leu653Ile
NM_173354.4:c.2104C>A NP_775490.2:p.Leu702Ile
XM_011529474.2:c.1957C>A XP_011527776.1:p.Leu653Ile
NM_173354.5:c.2104C>A MANE Select NP_775490.2:p.Leu702Ile
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