Canonical Allele Identifier: CA410606636
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 572576
ClinVar RCV Id: RCV000693990
dbSNP Id: rs1308366748
gnomAD v4: 21-43416986-G-A
MyVariant Identifiers: chr21:g.43416986G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416986G>A , CM000683.2:g.43416986G>A GRCh38
NG_052009.1:g.15147C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2108C>T MANE Select ENSP00000270162.6:p.Thr703Met
ENST00000270162.6:c.2108C>T ENSP00000270162.6:p.Thr703Met
NM_173354.3:c.2108C>T NP_775490.2:p.Thr703Met
XM_011529474.1:c.1961C>T XP_011527776.1:p.Thr654Met
NM_173354.4:c.2108C>T NP_775490.2:p.Thr703Met
XM_011529474.2:c.1961C>T XP_011527776.1:p.Thr654Met
NM_173354.5:c.2108C>T MANE Select NP_775490.2:p.Thr703Met
Search 100 bp 5'
Search 100 bp 3'