Canonical Allele Identifier: CA2391216124
Gene: SIK1 HGNC NCBI

Linked Data

dbSNP Id: rs1555890837
gnomAD v4: 21-43416507-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416507G>A , CM000683.2:g.43416507G>A GRCh38
NG_052009.1:g.15626C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.*235C>T MANE Select ENSP00000270162.6:n.*235C>T
ENST00000270162.6:c.*235C>T ENSP00000270162.6:n.*235C>T
NM_173354.3:c.*235C>T NP_775490.2:n.*235C>T
XM_011529474.1:c.*235C>T XP_011527776.1:n.*235C>T
NM_173354.4:c.*235C>T NP_775490.2:n.*235C>T
XM_011529474.2:c.*235C>T XP_011527776.1:n.*235C>T
NM_173354.5:c.*235C>T MANE Select NP_775490.2:n.*235C>T
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