Canonical Allele Identifier: CA410606205
Gene: SIK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43416768G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416768G>T , CM000683.2:g.43416768G>T GRCh38
NG_052009.1:g.15365C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2326C>A MANE Select ENSP00000270162.6:p.Leu776Ile
ENST00000270162.6:c.2326C>A ENSP00000270162.6:p.Leu776Ile
NM_173354.3:c.2326C>A NP_775490.2:p.Leu776Ile
XM_011529474.1:c.2179C>A XP_011527776.1:p.Leu727Ile
NM_173354.4:c.2326C>A NP_775490.2:p.Leu776Ile
XM_011529474.2:c.2179C>A XP_011527776.1:p.Leu727Ile
NM_173354.5:c.2326C>A MANE Select NP_775490.2:p.Leu776Ile