Canonical Allele Identifier: CA410606626
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1063221
ClinVar RCV Id: RCV001373041
dbSNP Id: rs1283951144
MyVariant Identifiers: chr21:g.43416980C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416980C>T , CM000683.2:g.43416980C>T GRCh38
NG_052009.1:g.15153G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2114G>A MANE Select ENSP00000270162.6:p.Gly705Glu
ENST00000270162.6:c.2114G>A ENSP00000270162.6:p.Gly705Glu
NM_173354.3:c.2114G>A NP_775490.2:p.Gly705Glu
XM_011529474.1:c.1967G>A XP_011527776.1:p.Gly656Glu
NM_173354.4:c.2114G>A NP_775490.2:p.Gly705Glu
XM_011529474.2:c.1967G>A XP_011527776.1:p.Gly656Glu
NM_173354.5:c.2114G>A MANE Select NP_775490.2:p.Gly705Glu
Search 100 bp 5'
Search 100 bp 3'