Canonical Allele Identifier: CA410606692
Gene: SIK1 HGNC NCBI

Linked Data

dbSNP Id: rs1430006007
MyVariant Identifiers: chr21:g.43417014C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43417014C>T , CM000683.2:g.43417014C>T GRCh38
NG_052009.1:g.15119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2080G>A MANE Select ENSP00000270162.6:p.Ala694Thr
ENST00000270162.6:c.2080G>A ENSP00000270162.6:p.Ala694Thr
NM_173354.3:c.2080G>A NP_775490.2:p.Ala694Thr
XM_011529474.1:c.1933G>A XP_011527776.1:p.Ala645Thr
NM_173354.4:c.2080G>A NP_775490.2:p.Ala694Thr
XM_011529474.2:c.1933G>A XP_011527776.1:p.Ala645Thr
NM_173354.5:c.2080G>A MANE Select NP_775490.2:p.Ala694Thr
Search 100 bp 5'
Search 100 bp 3'