Canonical Allele Identifier: CA321324333
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 542720
ClinVar RCV Id: RCV000653202
dbSNP Id: rs377024605
gnomAD v3: 21-43416886-G-A
gnomAD v4: 21-43416886-G-A
MyVariant Identifiers: chr21:g.43416886G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416886G>A , CM000683.2:g.43416886G>A GRCh38
NG_052009.1:g.15247C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2208C>T MANE Select ENSP00000270162.6:p.Thr736=
ENST00000270162.6:c.2208C>T ENSP00000270162.6:p.Thr736=
NM_173354.3:c.2208C>T NP_775490.2:p.Thr736=
XM_011529474.1:c.2061C>T XP_011527776.1:p.Thr687=
NM_173354.4:c.2208C>T NP_775490.2:p.Thr736=
XM_011529474.2:c.2061C>T XP_011527776.1:p.Thr687=
NM_173354.5:c.2208C>T MANE Select NP_775490.2:p.Thr736=
Search 100 bp 5'
Search 100 bp 3'