Canonical Allele Identifier: CA367397040
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2096270569
gnomAD v4: 7-44145216-C-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1316G>A ENSP00000379142.4:n.*1316G>A
ENST00000616242.5:c.*438G>A ENSP00000482149.2:n.*438G>A
ENST00000683378.1:n.544G>A
ENST00000336642.9:c.352G>A ENSP00000338009.5:p.Glu118Lys
ENST00000345378.7:c.1321G>A ENSP00000223366.2:p.Glu441Lys
ENST00000403799.8:c.1318G>A MANE Select ENSP00000384247.3:p.Glu440Lys
ENST00000671824.1:c.1381G>A ENSP00000500264.1:p.Glu461Lys
ENST00000672743.1:n.330G>A
ENST00000673284.1:c.1318G>A ENSP00000499852.1:p.Glu440Lys
ENST00000336642.8:c.370G>A ENSP00000338009.4:p.Glu124Lys
ENST00000345378.6:c.1321G>A ENSP00000223366.2:p.Glu441Lys
ENST00000395796.7:c.1315G>A ENSP00000379142.3:p.Glu439Lys
ENST00000403799.7:c.1318G>A ENSP00000384247.3:p.Glu440Lys
ENST00000437084.1:c.1267G>A ENSP00000402840.1:p.Glu423Lys
ENST00000459642.1:n.698G>A
ENST00000616242.4:c.1315G>A ENSP00000482149.1:p.Glu439Lys
NM_000162.3:c.1318G>A NP_000153.1:p.Glu440Lys
NM_033507.1:c.1321G>A NP_277042.1:p.Glu441Lys
NM_033508.1:c.1315G>A NP_277043.1:p.Glu439Lys
NM_000162.4:c.1318G>A NP_000153.1:p.Glu440Lys
NM_001354800.1:c.1318G>A NP_001341729.1:p.Glu440Lys
NM_001354801.1:c.307G>A NP_001341730.1:p.Glu103Lys
NM_001354802.1:c.178G>A NP_001341731.1:p.Glu60Lys
NM_001354803.1:c.352G>A NP_001341732.1:p.Glu118Lys
NM_033507.2:c.1321G>A NP_277042.1:p.Glu441Lys
NM_033508.2:c.1315G>A NP_277043.1:p.Glu439Lys
XM_024446707.1:c.178G>A XP_024302475.1:p.Glu60Lys
NM_000162.5:c.1318G>A MANE Select NP_000153.1:p.Glu440Lys
NM_033507.3:c.1321G>A NP_277042.1:p.Glu441Lys
NM_033508.3:c.1315G>A NP_277043.1:p.Glu439Lys
NM_001354803.2:c.352G>A NP_001341732.1:p.Glu118Lys