Canonical Allele Identifier: CA410606415
Gene: SIK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43416870G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416870G>C , CM000683.2:g.43416870G>C GRCh38
NG_052009.1:g.15263C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2224C>G MANE Select ENSP00000270162.6:p.Pro742Ala
ENST00000270162.6:c.2224C>G ENSP00000270162.6:p.Pro742Ala
NM_173354.3:c.2224C>G NP_775490.2:p.Pro742Ala
XM_011529474.1:c.2077C>G XP_011527776.1:p.Pro693Ala
NM_173354.4:c.2224C>G NP_775490.2:p.Pro742Ala
XM_011529474.2:c.2077C>G XP_011527776.1:p.Pro693Ala
NM_173354.5:c.2224C>G MANE Select NP_775490.2:p.Pro742Ala