Canonical Allele Identifier: CA410606568

Gene: SIK1

Linked Data

• MyVariant Identifiers: chr21:g.43416949C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43416949C>A , CM000683.2:g.43416949C>A	GRCh38
NG_052009.1:g.15184G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270162.8:c.2145G>T MANE Select	ENSP00000270162.6:p.Gln715His
ENST00000270162.6:c.2145G>T	ENSP00000270162.6:p.Gln715His
NM_173354.3:c.2145G>T	NP_775490.2:p.Gln715His
XM_011529474.1:c.1998G>T	XP_011527776.1:p.Gln666His
NM_173354.4:c.2145G>T	NP_775490.2:p.Gln715His
XM_011529474.2:c.1998G>T	XP_011527776.1:p.Gln666His
NM_173354.5:c.2145G>T MANE Select	NP_775490.2:p.Gln715His