Canonical Allele Identifier: CA367396996
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 585915
dbSNP Id: rs1562711915

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145207C>A , CM000669.2:g.44145207C>A GRCh38
NC_000007.13:g.44184806C>A , CM000669.1:g.44184806C>A GRCh37
NC_000007.12:g.44151331C>A NCBI36
NG_008847.1:g.49217G>T
NG_008847.2:g.57964G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1325G>T ENSP00000379142.4:n.*1325G>T
ENST00000616242.5:c.*447G>T ENSP00000482149.2:n.*447G>T
ENST00000683378.1:n.553G>T
ENST00000336642.9:c.361G>T ENSP00000338009.5:p.Glu121Ter
ENST00000345378.7:c.1330G>T ENSP00000223366.2:p.Glu444Ter
ENST00000403799.8:c.1327G>T MANE Select ENSP00000384247.3:p.Glu443Ter
ENST00000671824.1:c.1390G>T ENSP00000500264.1:p.Glu464Ter
ENST00000672743.1:n.339G>T
ENST00000673284.1:c.1327G>T ENSP00000499852.1:p.Glu443Ter
ENST00000336642.8:c.379G>T ENSP00000338009.4:p.Glu127Ter
ENST00000345378.6:c.1330G>T ENSP00000223366.2:p.Glu444Ter
ENST00000395796.7:c.1324G>T ENSP00000379142.3:p.Glu442Ter
ENST00000403799.7:c.1327G>T ENSP00000384247.3:p.Glu443Ter
ENST00000437084.1:c.1276G>T ENSP00000402840.1:p.Glu426Ter
ENST00000459642.1:n.707G>T
ENST00000616242.4:c.1324G>T ENSP00000482149.1:p.Glu442Ter
NM_000162.3:c.1327G>T NP_000153.1:p.Glu443Ter
NM_033507.1:c.1330G>T NP_277042.1:p.Glu444Ter
NM_033508.1:c.1324G>T NP_277043.1:p.Glu442Ter
NM_000162.4:c.1327G>T NP_000153.1:p.Glu443Ter
NM_001354800.1:c.1327G>T NP_001341729.1:p.Glu443Ter
NM_001354801.1:c.316G>T NP_001341730.1:p.Glu106Ter
NM_001354802.1:c.187G>T NP_001341731.1:p.Glu63Ter
NM_001354803.1:c.361G>T NP_001341732.1:p.Glu121Ter
NM_033507.2:c.1330G>T NP_277042.1:p.Glu444Ter
NM_033508.2:c.1324G>T NP_277043.1:p.Glu442Ter
XM_024446707.1:c.187G>T XP_024302475.1:p.Glu63Ter
NM_000162.5:c.1327G>T MANE Select NP_000153.1:p.Glu443Ter
NM_033507.3:c.1330G>T NP_277042.1:p.Glu444Ter
NM_033508.3:c.1324G>T NP_277043.1:p.Glu442Ter
NM_001354803.2:c.361G>T NP_001341732.1:p.Glu121Ter