Canonical Allele Identifier: CA410606630
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1023363
ClinVar RCV Id: RCV001323392
dbSNP Id: rs1217587469
MyVariant Identifiers: chr21:g.43416983G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416983G>A , CM000683.2:g.43416983G>A GRCh38
NG_052009.1:g.15150C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2111C>T MANE Select ENSP00000270162.6:p.Ser704Leu
ENST00000270162.6:c.2111C>T ENSP00000270162.6:p.Ser704Leu
NM_173354.3:c.2111C>T NP_775490.2:p.Ser704Leu
XM_011529474.1:c.1964C>T XP_011527776.1:p.Ser655Leu
NM_173354.4:c.2111C>T NP_775490.2:p.Ser704Leu
XM_011529474.2:c.1964C>T XP_011527776.1:p.Ser655Leu
NM_173354.5:c.2111C>T MANE Select NP_775490.2:p.Ser704Leu