Canonical Allele Identifier: CA410606556
Gene: SIK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43416942C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416942C>G , CM000683.2:g.43416942C>G GRCh38
NG_052009.1:g.15191G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2152G>C MANE Select ENSP00000270162.6:p.Ala718Pro
ENST00000270162.6:c.2152G>C ENSP00000270162.6:p.Ala718Pro
NM_173354.3:c.2152G>C NP_775490.2:p.Ala718Pro
XM_011529474.1:c.2005G>C XP_011527776.1:p.Ala669Pro
NM_173354.4:c.2152G>C NP_775490.2:p.Ala718Pro
XM_011529474.2:c.2005G>C XP_011527776.1:p.Ala669Pro
NM_173354.5:c.2152G>C MANE Select NP_775490.2:p.Ala718Pro