Canonical Allele Identifier: CA454863080
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1440350448
gnomAD v3: 7-44145688-C-A
gnomAD v4: 7-44145688-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145688C>A , CM000669.2:g.44145688C>A GRCh38
NC_000007.13:g.44185287C>A , CM000669.1:g.44185287C>A GRCh37
NC_000007.12:g.44151812C>A NCBI36
NG_008847.1:g.48736G>T
NG_008847.2:g.57483G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1060G>T ENSP00000379142.4:n.*1060G>T
ENST00000616242.5:c.*182G>T ENSP00000482149.2:n.*182G>T
ENST00000683378.1:n.288G>T
ENST00000336642.9:c.96G>T ENSP00000338009.5:p.Thr32=
ENST00000345378.7:c.1065G>T ENSP00000223366.2:p.Thr355=
ENST00000403799.8:c.1062G>T MANE Select ENSP00000384247.3:p.Thr354=
ENST00000671824.1:c.1125G>T ENSP00000500264.1:p.Thr375=
ENST00000672743.1:n.74G>T
ENST00000673284.1:c.1062G>T ENSP00000499852.1:p.Thr354=
ENST00000336642.8:c.114G>T ENSP00000338009.4:p.Thr38=
ENST00000345378.6:c.1065G>T ENSP00000223366.2:p.Thr355=
ENST00000395796.7:c.1059G>T ENSP00000379142.3:p.Thr353=
ENST00000403799.7:c.1062G>T ENSP00000384247.3:p.Thr354=
ENST00000437084.1:c.1011G>T ENSP00000402840.1:p.Thr337=
ENST00000459642.1:n.442G>T
ENST00000473353.1:n.360G>T
ENST00000616242.4:c.1059G>T ENSP00000482149.1:p.Thr353=
NM_000162.3:c.1062G>T NP_000153.1:p.Thr354=
NM_033507.1:c.1065G>T NP_277042.1:p.Thr355=
NM_033508.1:c.1059G>T NP_277043.1:p.Thr353=
NM_000162.4:c.1062G>T NP_000153.1:p.Thr354=
NM_001354800.1:c.1062G>T NP_001341729.1:p.Thr354=
NM_001354801.1:c.51G>T NP_001341730.1:p.Thr17=
NM_001354802.1:c.-79G>T NP_001341731.1:n.-79G>T
NM_001354803.1:c.96G>T NP_001341732.1:p.Thr32=
NM_033507.2:c.1065G>T NP_277042.1:p.Thr355=
NM_033508.2:c.1059G>T NP_277043.1:p.Thr353=
XM_024446707.1:c.-79G>T XP_024302475.1:n.-79G>T
NM_000162.5:c.1062G>T MANE Select NP_000153.1:p.Thr354=
NM_033507.3:c.1065G>T NP_277042.1:p.Thr355=
NM_033508.3:c.1059G>T NP_277043.1:p.Thr353=
NM_001354803.2:c.96G>T NP_001341732.1:p.Thr32=