Canonical Allele Identifier: CA321324294
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 737914
ClinVar RCV Id: RCV000913745
dbSNP Id: rs200534160
MyVariant Identifiers: chr21:g.43416867C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416867C>T , CM000683.2:g.43416867C>T GRCh38
NG_052009.1:g.15266G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2227G>A MANE Select ENSP00000270162.6:p.Ala743Thr
ENST00000270162.6:c.2227G>A ENSP00000270162.6:p.Ala743Thr
NM_173354.3:c.2227G>A NP_775490.2:p.Ala743Thr
XM_011529474.1:c.2080G>A XP_011527776.1:p.Ala694Thr
NM_173354.4:c.2227G>A NP_775490.2:p.Ala743Thr
XM_011529474.2:c.2080G>A XP_011527776.1:p.Ala694Thr
NM_173354.5:c.2227G>A MANE Select NP_775490.2:p.Ala743Thr