Canonical Allele Identifier: CA321324708
Gene: SIK1 HGNC NCBI

Linked Data

dbSNP Id: rs1026630341
gnomAD v4: 21-43417450-C-G
MyVariant Identifiers: chr21:g.43417450C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43417450C>G , CM000683.2:g.43417450C>G GRCh38
NG_052009.1:g.14683G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.1976+93G>C MANE Select ENSP00000270162.6:n.1976+93G>C
ENST00000270162.6:c.1976+93G>C ENSP00000270162.6:n.1976+93G>C
NM_173354.3:c.1976+93G>C NP_775490.2:n.1976+93G>C
XM_011529474.1:c.1829+93G>C XP_011527776.1:n.1829+93G>C
NM_173354.4:c.1976+93G>C NP_775490.2:n.1976+93G>C
XM_011529474.2:c.1829+93G>C XP_011527776.1:n.1829+93G>C
NM_173354.5:c.1976+93G>C MANE Select NP_775490.2:n.1976+93G>C
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