Canonical Allele Identifier: CA2591031618
Gene: SIK1 HGNC NCBI

Linked Data

gnomAD v3: 21-43416518-C-G
gnomAD v4: 21-43416518-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43416518C>G , CM000683.2:g.43416518C>G GRCh38
NG_052009.1:g.15615G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270162.8:c.*224G>C MANE Select ENSP00000270162.6:n.*224G>C
ENST00000270162.6:c.*224G>C ENSP00000270162.6:n.*224G>C
NM_173354.3:c.*224G>C NP_775490.2:n.*224G>C
XM_011529474.1:c.*224G>C XP_011527776.1:n.*224G>C
NM_173354.4:c.*224G>C NP_775490.2:n.*224G>C
XM_011529474.2:c.*224G>C XP_011527776.1:n.*224G>C
NM_173354.5:c.*224G>C MANE Select NP_775490.2:n.*224G>C
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