Canonical Allele Identifier: CA321324477
Gene: SIK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 476098
ClinVar RCV Id: RCV000558419
dbSNP Id: rs757755073
MyVariant Identifiers: chr21:g.43417001G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43417001G>A , CM000683.2:g.43417001G>A GRCh38
NG_052009.1:g.15132C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270162.8:c.2093C>T MANE Select ENSP00000270162.6:p.Pro698Leu
ENST00000270162.6:c.2093C>T ENSP00000270162.6:p.Pro698Leu
NM_173354.3:c.2093C>T NP_775490.2:p.Pro698Leu
XM_011529474.1:c.1946C>T XP_011527776.1:p.Pro649Leu
NM_173354.4:c.2093C>T NP_775490.2:p.Pro698Leu
XM_011529474.2:c.1946C>T XP_011527776.1:p.Pro649Leu
NM_173354.5:c.2093C>T MANE Select NP_775490.2:p.Pro698Leu