Canonical Allele Identifier: CA410606187
Gene: SIK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43416759A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416759A>C , CM000683.2:g.43416759A>C GRCh38
NG_052009.1:g.15374T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2335T>G MANE Select ENSP00000270162.6:p.Phe779Val
ENST00000270162.6:c.2335T>G ENSP00000270162.6:p.Phe779Val
NM_173354.3:c.2335T>G NP_775490.2:p.Phe779Val
XM_011529474.1:c.2188T>G XP_011527776.1:p.Phe730Val
NM_173354.4:c.2335T>G NP_775490.2:p.Phe779Val
XM_011529474.2:c.2188T>G XP_011527776.1:p.Phe730Val
NM_173354.5:c.2335T>G MANE Select NP_775490.2:p.Phe779Val