Canonical Allele Identifier: CA410606593
Gene: SIK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43416962G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416962G>T , CM000683.2:g.43416962G>T GRCh38
NG_052009.1:g.15171C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2132C>A MANE Select ENSP00000270162.6:p.Pro711His
ENST00000270162.6:c.2132C>A ENSP00000270162.6:p.Pro711His
NM_173354.3:c.2132C>A NP_775490.2:p.Pro711His
XM_011529474.1:c.1985C>A XP_011527776.1:p.Pro662His
NM_173354.4:c.2132C>A NP_775490.2:p.Pro711His
XM_011529474.2:c.1985C>A XP_011527776.1:p.Pro662His
NM_173354.5:c.2132C>A MANE Select NP_775490.2:p.Pro711His