Canonical Allele Identifier: CA410606586
Gene: SIK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43416957G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416957G>A , CM000683.2:g.43416957G>A GRCh38
NG_052009.1:g.15176C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.2137C>T MANE Select ENSP00000270162.6:p.Leu713Phe
ENST00000270162.6:c.2137C>T ENSP00000270162.6:p.Leu713Phe
NM_173354.3:c.2137C>T NP_775490.2:p.Leu713Phe
XM_011529474.1:c.1990C>T XP_011527776.1:p.Leu664Phe
NM_173354.4:c.2137C>T NP_775490.2:p.Leu713Phe
XM_011529474.2:c.1990C>T XP_011527776.1:p.Leu664Phe
NM_173354.5:c.2137C>T MANE Select NP_775490.2:p.Leu713Phe