Canonical Allele Identifier: CA321324287
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 476103
dbSNP Id: rs768404256
MyVariant Identifiers: chr21:g.43416852G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416852G>A , CM000683.2:g.43416852G>A GRCh38
NG_052009.1:g.15281C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2242C>T MANE Select ENSP00000270162.6:p.Arg748Cys
ENST00000270162.6:c.2242C>T ENSP00000270162.6:p.Arg748Cys
NM_173354.3:c.2242C>T NP_775490.2:p.Arg748Cys
XM_011529474.1:c.2095C>T XP_011527776.1:p.Arg699Cys
NM_173354.4:c.2242C>T NP_775490.2:p.Arg748Cys
XM_011529474.2:c.2095C>T XP_011527776.1:p.Arg699Cys
NM_173354.5:c.2242C>T MANE Select NP_775490.2:p.Arg748Cys