Canonical Allele Identifier: CA2580098759
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2151839
ClinVar RCV Id: RCV003078993

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416979C>T , CM000683.2:g.43416979C>T GRCh38
NG_052009.1:g.15154G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2115G>A MANE Select ENSP00000270162.6:p.Gly705=
ENST00000270162.6:c.2115G>A ENSP00000270162.6:p.Gly705=
NM_173354.3:c.2115G>A NP_775490.2:p.Gly705=
XM_011529474.1:c.1968G>A XP_011527776.1:p.Gly656=
NM_173354.4:c.2115G>A NP_775490.2:p.Gly705=
XM_011529474.2:c.1968G>A XP_011527776.1:p.Gly656=
NM_173354.5:c.2115G>A MANE Select NP_775490.2:p.Gly705=