Canonical Allele Identifier: CA367398745
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1709202
ClinVar RCV Id: RCV002289017
dbSNP Id: rs2096271616

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145605C>G , CM000669.2:g.44145605C>G GRCh38
NC_000007.13:g.44185204C>G , CM000669.1:g.44185204C>G GRCh37
NC_000007.12:g.44151729C>G NCBI36
NG_008847.1:g.48819G>C
NG_008847.2:g.57566G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1143G>C ENSP00000379142.4:n.*1143G>C
ENST00000616242.5:c.*265G>C ENSP00000482149.2:n.*265G>C
ENST00000683378.1:n.371G>C
ENST00000336642.9:c.179G>C ENSP00000338009.5:p.Cys60Ser
ENST00000345378.7:c.1148G>C ENSP00000223366.2:p.Cys383Ser
ENST00000403799.8:c.1145G>C MANE Select ENSP00000384247.3:p.Cys382Ser
ENST00000671824.1:c.1208G>C ENSP00000500264.1:p.Cys403Ser
ENST00000672743.1:n.157G>C
ENST00000673284.1:c.1145G>C ENSP00000499852.1:p.Cys382Ser
ENST00000336642.8:c.197G>C ENSP00000338009.4:p.Cys66Ser
ENST00000345378.6:c.1148G>C ENSP00000223366.2:p.Cys383Ser
ENST00000395796.7:c.1142G>C ENSP00000379142.3:p.Cys381Ser
ENST00000403799.7:c.1145G>C ENSP00000384247.3:p.Cys382Ser
ENST00000437084.1:c.1094G>C ENSP00000402840.1:p.Cys365Ser
ENST00000459642.1:n.525G>C
ENST00000616242.4:c.1142G>C ENSP00000482149.1:p.Cys381Ser
NM_000162.3:c.1145G>C NP_000153.1:p.Cys382Ser
NM_033507.1:c.1148G>C NP_277042.1:p.Cys383Ser
NM_033508.1:c.1142G>C NP_277043.1:p.Cys381Ser
NM_000162.4:c.1145G>C NP_000153.1:p.Cys382Ser
NM_001354800.1:c.1145G>C NP_001341729.1:p.Cys382Ser
NM_001354801.1:c.134G>C NP_001341730.1:p.Cys45Ser
NM_001354802.1:c.5G>C NP_001341731.1:p.Cys2Ser
NM_001354803.1:c.179G>C NP_001341732.1:p.Cys60Ser
NM_033507.2:c.1148G>C NP_277042.1:p.Cys383Ser
NM_033508.2:c.1142G>C NP_277043.1:p.Cys381Ser
XM_024446707.1:c.5G>C XP_024302475.1:p.Cys2Ser
NM_000162.5:c.1145G>C MANE Select NP_000153.1:p.Cys382Ser
NM_033507.3:c.1148G>C NP_277042.1:p.Cys383Ser
NM_033508.3:c.1142G>C NP_277043.1:p.Cys381Ser
NM_001354803.2:c.179G>C NP_001341732.1:p.Cys60Ser