Canonical Allele Identifier: CA367399114
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2775417
ClinVar RCV Id: RCV003577094
gnomAD v4: 7-44145671-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145671G>A , CM000669.2:g.44145671G>A GRCh38
NC_000007.13:g.44185270G>A , CM000669.1:g.44185270G>A GRCh37
NC_000007.12:g.44151795G>A NCBI36
NG_008847.1:g.48753C>T
NG_008847.2:g.57500C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1077C>T ENSP00000379142.4:n.*1077C>T
ENST00000616242.5:c.*199C>T ENSP00000482149.2:n.*199C>T
ENST00000683378.1:n.305C>T
ENST00000336642.9:c.113C>T ENSP00000338009.5:p.Ser38Leu
ENST00000345378.7:c.1082C>T ENSP00000223366.2:p.Ser361Leu
ENST00000403799.8:c.1079C>T MANE Select ENSP00000384247.3:p.Ser360Leu
ENST00000671824.1:c.1142C>T ENSP00000500264.1:p.Ser381Leu
ENST00000672743.1:n.91C>T
ENST00000673284.1:c.1079C>T ENSP00000499852.1:p.Ser360Leu
ENST00000336642.8:c.131C>T ENSP00000338009.4:p.Ser44Leu
ENST00000345378.6:c.1082C>T ENSP00000223366.2:p.Ser361Leu
ENST00000395796.7:c.1076C>T ENSP00000379142.3:p.Ser359Leu
ENST00000403799.7:c.1079C>T ENSP00000384247.3:p.Ser360Leu
ENST00000437084.1:c.1028C>T ENSP00000402840.1:p.Ser343Leu
ENST00000459642.1:n.459C>T
ENST00000473353.1:n.377C>T
ENST00000616242.4:c.1076C>T ENSP00000482149.1:p.Ser359Leu
NM_000162.3:c.1079C>T NP_000153.1:p.Ser360Leu
NM_033507.1:c.1082C>T NP_277042.1:p.Ser361Leu
NM_033508.1:c.1076C>T NP_277043.1:p.Ser359Leu
NM_000162.4:c.1079C>T NP_000153.1:p.Ser360Leu
NM_001354800.1:c.1079C>T NP_001341729.1:p.Ser360Leu
NM_001354801.1:c.68C>T NP_001341730.1:p.Ser23Leu
NM_001354802.1:c.-62C>T NP_001341731.1:n.-62C>T
NM_001354803.1:c.113C>T NP_001341732.1:p.Ser38Leu
NM_033507.2:c.1082C>T NP_277042.1:p.Ser361Leu
NM_033508.2:c.1076C>T NP_277043.1:p.Ser359Leu
XM_024446707.1:c.-62C>T XP_024302475.1:n.-62C>T
NM_000162.5:c.1079C>T MANE Select NP_000153.1:p.Ser360Leu
NM_033507.3:c.1082C>T NP_277042.1:p.Ser361Leu
NM_033508.3:c.1076C>T NP_277043.1:p.Ser359Leu
NM_001354803.2:c.113C>T NP_001341732.1:p.Ser38Leu