Canonical Allele Identifier: CA367397308
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145278A>C , CM000669.2:g.44145278A>C GRCh38
NC_000007.13:g.44184877A>C , CM000669.1:g.44184877A>C GRCh37
NC_000007.12:g.44151402A>C NCBI36
NG_008847.1:g.49146T>G
NG_008847.2:g.57893T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1254T>G ENSP00000379142.4:n.*1254T>G
ENST00000616242.5:c.*376T>G ENSP00000482149.2:n.*376T>G
ENST00000683378.1:n.482T>G
ENST00000336642.9:c.290T>G ENSP00000338009.5:p.Phe97Cys
ENST00000345378.7:c.1259T>G ENSP00000223366.2:p.Phe420Cys
ENST00000403799.8:c.1256T>G MANE Select ENSP00000384247.3:p.Phe419Cys
ENST00000671824.1:c.1319T>G ENSP00000500264.1:p.Phe440Cys
ENST00000672743.1:n.268T>G
ENST00000673284.1:c.1256T>G ENSP00000499852.1:p.Phe419Cys
ENST00000336642.8:c.308T>G ENSP00000338009.4:p.Phe103Cys
ENST00000345378.6:c.1259T>G ENSP00000223366.2:p.Phe420Cys
ENST00000395796.7:c.1253T>G ENSP00000379142.3:p.Phe418Cys
ENST00000403799.7:c.1256T>G ENSP00000384247.3:p.Phe419Cys
ENST00000437084.1:c.1205T>G ENSP00000402840.1:p.Phe402Cys
ENST00000459642.1:n.636T>G
ENST00000616242.4:c.1253T>G ENSP00000482149.1:p.Phe418Cys
NM_000162.3:c.1256T>G NP_000153.1:p.Phe419Cys
NM_033507.1:c.1259T>G NP_277042.1:p.Phe420Cys
NM_033508.1:c.1253T>G NP_277043.1:p.Phe418Cys
NM_000162.4:c.1256T>G NP_000153.1:p.Phe419Cys
NM_001354800.1:c.1256T>G NP_001341729.1:p.Phe419Cys
NM_001354801.1:c.245T>G NP_001341730.1:p.Phe82Cys
NM_001354802.1:c.116T>G NP_001341731.1:p.Phe39Cys
NM_001354803.1:c.290T>G NP_001341732.1:p.Phe97Cys
NM_033507.2:c.1259T>G NP_277042.1:p.Phe420Cys
NM_033508.2:c.1253T>G NP_277043.1:p.Phe418Cys
XM_024446707.1:c.116T>G XP_024302475.1:p.Phe39Cys
NM_000162.5:c.1256T>G MANE Select NP_000153.1:p.Phe419Cys
NM_033507.3:c.1259T>G NP_277042.1:p.Phe420Cys
NM_033508.3:c.1253T>G NP_277043.1:p.Phe418Cys
NM_001354803.2:c.290T>G NP_001341732.1:p.Phe97Cys