Canonical Allele Identifier: CA410606184
Gene: SIK1 HGNC NCBI

Linked Data

gnomAD v4: 21-43416758-A-C
MyVariant Identifiers: chr21:g.43416758A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416758A>C , CM000683.2:g.43416758A>C GRCh38
NG_052009.1:g.15375T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2336T>G MANE Select ENSP00000270162.6:p.Phe779Cys
ENST00000270162.6:c.2336T>G ENSP00000270162.6:p.Phe779Cys
NM_173354.3:c.2336T>G NP_775490.2:p.Phe779Cys
XM_011529474.1:c.2189T>G XP_011527776.1:p.Phe730Cys
NM_173354.4:c.2336T>G NP_775490.2:p.Phe779Cys
XM_011529474.2:c.2189T>G XP_011527776.1:p.Phe730Cys
NM_173354.5:c.2336T>G MANE Select NP_775490.2:p.Phe779Cys
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