Canonical Allele Identifier: CA454863282
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1400330157
gnomAD v2: 7-44185230-G-A
gnomAD v4: 7-44145631-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145631G>A , CM000669.2:g.44145631G>A GRCh38
NC_000007.13:g.44185230G>A , CM000669.1:g.44185230G>A GRCh37
NC_000007.12:g.44151755G>A NCBI36
NG_008847.1:g.48793C>T
NG_008847.2:g.57540C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1117C>T ENSP00000379142.4:n.*1117C>T
ENST00000616242.5:c.*239C>T ENSP00000482149.2:n.*239C>T
ENST00000683378.1:n.345C>T
ENST00000336642.9:c.153C>T ENSP00000338009.5:p.Ser51=
ENST00000345378.7:c.1122C>T ENSP00000223366.2:p.Ser374=
ENST00000403799.8:c.1119C>T MANE Select ENSP00000384247.3:p.Ser373=
ENST00000671824.1:c.1182C>T ENSP00000500264.1:p.Ser394=
ENST00000672743.1:n.131C>T
ENST00000673284.1:c.1119C>T ENSP00000499852.1:p.Ser373=
ENST00000336642.8:c.171C>T ENSP00000338009.4:p.Ser57=
ENST00000345378.6:c.1122C>T ENSP00000223366.2:p.Ser374=
ENST00000395796.7:c.1116C>T ENSP00000379142.3:p.Ser372=
ENST00000403799.7:c.1119C>T ENSP00000384247.3:p.Ser373=
ENST00000437084.1:c.1068C>T ENSP00000402840.1:p.Ser356=
ENST00000459642.1:n.499C>T
ENST00000616242.4:c.1116C>T ENSP00000482149.1:p.Ser372=
NM_000162.3:c.1119C>T NP_000153.1:p.Ser373=
NM_033507.1:c.1122C>T NP_277042.1:p.Ser374=
NM_033508.1:c.1116C>T NP_277043.1:p.Ser372=
NM_000162.4:c.1119C>T NP_000153.1:p.Ser373=
NM_001354800.1:c.1119C>T NP_001341729.1:p.Ser373=
NM_001354801.1:c.108C>T NP_001341730.1:p.Ser36=
NM_001354802.1:c.-22C>T NP_001341731.1:n.-22C>T
NM_001354803.1:c.153C>T NP_001341732.1:p.Ser51=
NM_033507.2:c.1122C>T NP_277042.1:p.Ser374=
NM_033508.2:c.1116C>T NP_277043.1:p.Ser372=
XM_024446707.1:c.-22C>T XP_024302475.1:n.-22C>T
NM_000162.5:c.1119C>T MANE Select NP_000153.1:p.Ser373=
NM_033507.3:c.1122C>T NP_277042.1:p.Ser374=
NM_033508.3:c.1116C>T NP_277043.1:p.Ser372=
NM_001354803.2:c.153C>T NP_001341732.1:p.Ser51=