Canonical Allele Identifier: CA367398944
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2055250
ClinVar RCV Id: RCV002933238

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145639A>C , CM000669.2:g.44145639A>C GRCh38
NC_000007.13:g.44185238A>C , CM000669.1:g.44185238A>C GRCh37
NC_000007.12:g.44151763A>C NCBI36
NG_008847.1:g.48785T>G
NG_008847.2:g.57532T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*1109T>G ENSP00000379142.4:n.*1109T>G
ENST00000616242.5:c.*231T>G ENSP00000482149.2:n.*231T>G
ENST00000683378.1:n.337T>G
ENST00000336642.9:c.145T>G ENSP00000338009.5:p.Cys49Gly
ENST00000345378.7:c.1114T>G ENSP00000223366.2:p.Cys372Gly
ENST00000403799.8:c.1111T>G MANE Select ENSP00000384247.3:p.Cys371Gly
ENST00000671824.1:c.1174T>G ENSP00000500264.1:p.Cys392Gly
ENST00000672743.1:n.123T>G
ENST00000673284.1:c.1111T>G ENSP00000499852.1:p.Cys371Gly
ENST00000336642.8:c.163T>G ENSP00000338009.4:p.Cys55Gly
ENST00000345378.6:c.1114T>G ENSP00000223366.2:p.Cys372Gly
ENST00000395796.7:c.1108T>G ENSP00000379142.3:p.Cys370Gly
ENST00000403799.7:c.1111T>G ENSP00000384247.3:p.Cys371Gly
ENST00000437084.1:c.1060T>G ENSP00000402840.1:p.Cys354Gly
ENST00000459642.1:n.491T>G
ENST00000616242.4:c.1108T>G ENSP00000482149.1:p.Cys370Gly
NM_000162.3:c.1111T>G NP_000153.1:p.Cys371Gly
NM_033507.1:c.1114T>G NP_277042.1:p.Cys372Gly
NM_033508.1:c.1108T>G NP_277043.1:p.Cys370Gly
NM_000162.4:c.1111T>G NP_000153.1:p.Cys371Gly
NM_001354800.1:c.1111T>G NP_001341729.1:p.Cys371Gly
NM_001354801.1:c.100T>G NP_001341730.1:p.Cys34Gly
NM_001354802.1:c.-30T>G NP_001341731.1:n.-30T>G
NM_001354803.1:c.145T>G NP_001341732.1:p.Cys49Gly
NM_033507.2:c.1114T>G NP_277042.1:p.Cys372Gly
NM_033508.2:c.1108T>G NP_277043.1:p.Cys370Gly
XM_024446707.1:c.-30T>G XP_024302475.1:n.-30T>G
NM_000162.5:c.1111T>G MANE Select NP_000153.1:p.Cys371Gly
NM_033507.3:c.1114T>G NP_277042.1:p.Cys372Gly
NM_033508.3:c.1108T>G NP_277043.1:p.Cys370Gly
NM_001354803.2:c.145T>G NP_001341732.1:p.Cys49Gly