Canonical Allele Identifier: CA749585161

Gene: SIK1

Linked Data

• MyVariant Identifiers: chr21:g.43417394T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43417394T>A , CM000683.2:g.43417394T>A	GRCh38
NG_052009.1:g.14739A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270162.8:c.1976+149A>T MANE Select	ENSP00000270162.6:n.1976+149A>T
ENST00000270162.6:c.1976+149A>T	ENSP00000270162.6:n.1976+149A>T
NM_173354.3:c.1976+149A>T	NP_775490.2:n.1976+149A>T
XM_011529474.1:c.1829+149A>T	XP_011527776.1:n.1829+149A>T
NM_173354.4:c.1976+149A>T	NP_775490.2:n.1976+149A>T
XM_011529474.2:c.1829+149A>T	XP_011527776.1:n.1829+149A>T
NM_173354.5:c.1976+149A>T MANE Select	NP_775490.2:n.1976+149A>T