Canonical Allele Identifier: CA410606417
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 833576
ClinVar RCV Id: RCV001034029
dbSNP Id: rs1227514074
MyVariant Identifiers: chr21:g.43416872A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416872A>C , CM000683.2:g.43416872A>C GRCh38
NG_052009.1:g.15261T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2222T>G MANE Select ENSP00000270162.6:p.Leu741Arg
ENST00000270162.6:c.2222T>G ENSP00000270162.6:p.Leu741Arg
NM_173354.3:c.2222T>G NP_775490.2:p.Leu741Arg
XM_011529474.1:c.2075T>G XP_011527776.1:p.Leu692Arg
NM_173354.4:c.2222T>G NP_775490.2:p.Leu741Arg
XM_011529474.2:c.2075T>G XP_011527776.1:p.Leu692Arg
NM_173354.5:c.2222T>G MANE Select NP_775490.2:p.Leu741Arg