Canonical Allele Identifier: CA213721
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36179
dbSNP Id: rs193922267
gnomAD v4: 7-44145597-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145597C>T , CM000669.2:g.44145597C>T GRCh38
NC_000007.13:g.44185196C>T , CM000669.1:g.44185196C>T GRCh37
NC_000007.12:g.44151721C>T NCBI36
NG_008847.1:g.48827G>A
NG_008847.2:g.57574G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1151G>A ENSP00000379142.4:n.*1151G>A
ENST00000616242.5:c.*273G>A ENSP00000482149.2:n.*273G>A
ENST00000683378.1:n.379G>A
ENST00000336642.9:c.187G>A ENSP00000338009.5:p.Gly63Arg
ENST00000345378.7:c.1156G>A ENSP00000223366.2:p.Gly386Arg
ENST00000403799.8:c.1153G>A MANE Select ENSP00000384247.3:p.Gly385Arg
ENST00000671824.1:c.1216G>A ENSP00000500264.1:p.Gly406Arg
ENST00000672743.1:n.165G>A
ENST00000673284.1:c.1153G>A ENSP00000499852.1:p.Gly385Arg
ENST00000336642.8:c.205G>A ENSP00000338009.4:p.Gly69Arg
ENST00000345378.6:c.1156G>A ENSP00000223366.2:p.Gly386Arg
ENST00000395796.7:c.1150G>A ENSP00000379142.3:p.Gly384Arg
ENST00000403799.7:c.1153G>A ENSP00000384247.3:p.Gly385Arg
ENST00000437084.1:c.1102G>A ENSP00000402840.1:p.Gly368Arg
ENST00000459642.1:n.533G>A
ENST00000616242.4:c.1150G>A ENSP00000482149.1:p.Gly384Arg
NM_000162.3:c.1153G>A NP_000153.1:p.Gly385Arg
NM_033507.1:c.1156G>A NP_277042.1:p.Gly386Arg
NM_033508.1:c.1150G>A NP_277043.1:p.Gly384Arg
NM_000162.4:c.1153G>A NP_000153.1:p.Gly385Arg
NM_001354800.1:c.1153G>A NP_001341729.1:p.Gly385Arg
NM_001354801.1:c.142G>A NP_001341730.1:p.Gly48Arg
NM_001354802.1:c.13G>A NP_001341731.1:p.Gly5Arg
NM_001354803.1:c.187G>A NP_001341732.1:p.Gly63Arg
NM_033507.2:c.1156G>A NP_277042.1:p.Gly386Arg
NM_033508.2:c.1150G>A NP_277043.1:p.Gly384Arg
XM_024446707.1:c.13G>A XP_024302475.1:p.Gly5Arg
NM_000162.5:c.1153G>A MANE Select NP_000153.1:p.Gly385Arg
NM_033507.3:c.1156G>A NP_277042.1:p.Gly386Arg
NM_033508.3:c.1150G>A NP_277043.1:p.Gly384Arg
NM_001354803.2:c.187G>A NP_001341732.1:p.Gly63Arg