Canonical Allele Identifier: CA410606594
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 648382
ClinVar RCV Id: RCV000803098
dbSNP Id: rs1601506378
MyVariant Identifiers: chr21:g.43416962G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416962G>C , CM000683.2:g.43416962G>C GRCh38
NG_052009.1:g.15171C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2132C>G MANE Select ENSP00000270162.6:p.Pro711Arg
ENST00000270162.6:c.2132C>G ENSP00000270162.6:p.Pro711Arg
NM_173354.3:c.2132C>G NP_775490.2:p.Pro711Arg
XM_011529474.1:c.1985C>G XP_011527776.1:p.Pro662Arg
NM_173354.4:c.2132C>G NP_775490.2:p.Pro711Arg
XM_011529474.2:c.1985C>G XP_011527776.1:p.Pro662Arg
NM_173354.5:c.2132C>G MANE Select NP_775490.2:p.Pro711Arg
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