Canonical Allele Identifier: CA410606542
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1392523
ClinVar RCV Id: RCV001882201
dbSNP Id: rs1049188125
MyVariant Identifiers: chr21:g.43416933C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416933C>T , CM000683.2:g.43416933C>T GRCh38
NG_052009.1:g.15200G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2161G>A MANE Select ENSP00000270162.6:p.Val721Met
ENST00000270162.6:c.2161G>A ENSP00000270162.6:p.Val721Met
NM_173354.3:c.2161G>A NP_775490.2:p.Val721Met
XM_011529474.1:c.2014G>A XP_011527776.1:p.Val672Met
NM_173354.4:c.2161G>A NP_775490.2:p.Val721Met
XM_011529474.2:c.2014G>A XP_011527776.1:p.Val672Met
NM_173354.5:c.2161G>A MANE Select NP_775490.2:p.Val721Met