Canonical Allele Identifier: CA410606371
Gene: SIK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43416845G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416845G>C , CM000683.2:g.43416845G>C GRCh38
NG_052009.1:g.15288C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2249C>G MANE Select ENSP00000270162.6:p.Ala750Gly
ENST00000270162.6:c.2249C>G ENSP00000270162.6:p.Ala750Gly
NM_173354.3:c.2249C>G NP_775490.2:p.Ala750Gly
XM_011529474.1:c.2102C>G XP_011527776.1:p.Ala701Gly
NM_173354.4:c.2249C>G NP_775490.2:p.Ala750Gly
XM_011529474.2:c.2102C>G XP_011527776.1:p.Ala701Gly
NM_173354.5:c.2249C>G MANE Select NP_775490.2:p.Ala750Gly