Canonical Allele Identifier: CA410606683
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1408562
ClinVar RCV Id: RCV001909539
dbSNP Id: rs2146467891
MyVariant Identifiers: chr21:g.43417010G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43417010G>A , CM000683.2:g.43417010G>A GRCh38
NG_052009.1:g.15123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2084C>T MANE Select ENSP00000270162.6:p.Ala695Val
ENST00000270162.6:c.2084C>T ENSP00000270162.6:p.Ala695Val
NM_173354.3:c.2084C>T NP_775490.2:p.Ala695Val
XM_011529474.1:c.1937C>T XP_011527776.1:p.Ala646Val
NM_173354.4:c.2084C>T NP_775490.2:p.Ala695Val
XM_011529474.2:c.1937C>T XP_011527776.1:p.Ala646Val
NM_173354.5:c.2084C>T MANE Select NP_775490.2:p.Ala695Val
Search 100 bp 5'
Search 100 bp 3'