Canonical Allele Identifier: CA321324181
Gene: SIK1 HGNC NCBI

Linked Data

dbSNP Id: rs746535234
MyVariant Identifiers: chr21:g.43416694A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416694A>C , CM000683.2:g.43416694A>C GRCh38
NG_052009.1:g.15439T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.*48T>G MANE Select ENSP00000270162.6:n.*48T>G
ENST00000270162.6:c.*48T>G ENSP00000270162.6:n.*48T>G
NM_173354.3:c.*48T>G NP_775490.2:n.*48T>G
XM_011529474.1:c.*48T>G XP_011527776.1:n.*48T>G
NM_173354.4:c.*48T>G NP_775490.2:n.*48T>G
XM_011529474.2:c.*48T>G XP_011527776.1:n.*48T>G
NM_173354.5:c.*48T>G MANE Select NP_775490.2:n.*48T>G