Canonical Allele Identifier: CA367397036
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2571652
ClinVar RCV Id: RCV003313362

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145216C>A , CM000669.2:g.44145216C>A GRCh38
NC_000007.13:g.44184815C>A , CM000669.1:g.44184815C>A GRCh37
NC_000007.12:g.44151340C>A NCBI36
NG_008847.1:g.49208G>T
NG_008847.2:g.57955G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1316G>T ENSP00000379142.4:n.*1316G>T
ENST00000616242.5:c.*438G>T ENSP00000482149.2:n.*438G>T
ENST00000683378.1:n.544G>T
ENST00000336642.9:c.352G>T ENSP00000338009.5:p.Glu118Ter
ENST00000345378.7:c.1321G>T ENSP00000223366.2:p.Glu441Ter
ENST00000403799.8:c.1318G>T MANE Select ENSP00000384247.3:p.Glu440Ter
ENST00000671824.1:c.1381G>T ENSP00000500264.1:p.Glu461Ter
ENST00000672743.1:n.330G>T
ENST00000673284.1:c.1318G>T ENSP00000499852.1:p.Glu440Ter
ENST00000336642.8:c.370G>T ENSP00000338009.4:p.Glu124Ter
ENST00000345378.6:c.1321G>T ENSP00000223366.2:p.Glu441Ter
ENST00000395796.7:c.1315G>T ENSP00000379142.3:p.Glu439Ter
ENST00000403799.7:c.1318G>T ENSP00000384247.3:p.Glu440Ter
ENST00000437084.1:c.1267G>T ENSP00000402840.1:p.Glu423Ter
ENST00000459642.1:n.698G>T
ENST00000616242.4:c.1315G>T ENSP00000482149.1:p.Glu439Ter
NM_000162.3:c.1318G>T NP_000153.1:p.Glu440Ter
NM_033507.1:c.1321G>T NP_277042.1:p.Glu441Ter
NM_033508.1:c.1315G>T NP_277043.1:p.Glu439Ter
NM_000162.4:c.1318G>T NP_000153.1:p.Glu440Ter
NM_001354800.1:c.1318G>T NP_001341729.1:p.Glu440Ter
NM_001354801.1:c.307G>T NP_001341730.1:p.Glu103Ter
NM_001354802.1:c.178G>T NP_001341731.1:p.Glu60Ter
NM_001354803.1:c.352G>T NP_001341732.1:p.Glu118Ter
NM_033507.2:c.1321G>T NP_277042.1:p.Glu441Ter
NM_033508.2:c.1315G>T NP_277043.1:p.Glu439Ter
XM_024446707.1:c.178G>T XP_024302475.1:p.Glu60Ter
NM_000162.5:c.1318G>T MANE Select NP_000153.1:p.Glu440Ter
NM_033507.3:c.1321G>T NP_277042.1:p.Glu441Ter
NM_033508.3:c.1315G>T NP_277043.1:p.Glu439Ter
NM_001354803.2:c.352G>T NP_001341732.1:p.Glu118Ter