Canonical Allele Identifier: CA367398829
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145623-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145623G>A , CM000669.2:g.44145623G>A GRCh38
NC_000007.13:g.44185222G>A , CM000669.1:g.44185222G>A GRCh37
NC_000007.12:g.44151747G>A NCBI36
NG_008847.1:g.48801C>T
NG_008847.2:g.57548C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1125C>T ENSP00000379142.4:n.*1125C>T
ENST00000616242.5:c.*247C>T ENSP00000482149.2:n.*247C>T
ENST00000683378.1:n.353C>T
ENST00000336642.9:c.161C>T ENSP00000338009.5:p.Thr54Met
ENST00000345378.7:c.1130C>T ENSP00000223366.2:p.Thr377Met
ENST00000403799.8:c.1127C>T MANE Select ENSP00000384247.3:p.Thr376Met
ENST00000671824.1:c.1190C>T ENSP00000500264.1:p.Thr397Met
ENST00000672743.1:n.139C>T
ENST00000673284.1:c.1127C>T ENSP00000499852.1:p.Thr376Met
ENST00000336642.8:c.179C>T ENSP00000338009.4:p.Thr60Met
ENST00000345378.6:c.1130C>T ENSP00000223366.2:p.Thr377Met
ENST00000395796.7:c.1124C>T ENSP00000379142.3:p.Thr375Met
ENST00000403799.7:c.1127C>T ENSP00000384247.3:p.Thr376Met
ENST00000437084.1:c.1076C>T ENSP00000402840.1:p.Thr359Met
ENST00000459642.1:n.507C>T
ENST00000616242.4:c.1124C>T ENSP00000482149.1:p.Thr375Met
NM_000162.3:c.1127C>T NP_000153.1:p.Thr376Met
NM_033507.1:c.1130C>T NP_277042.1:p.Thr377Met
NM_033508.1:c.1124C>T NP_277043.1:p.Thr375Met
NM_000162.4:c.1127C>T NP_000153.1:p.Thr376Met
NM_001354800.1:c.1127C>T NP_001341729.1:p.Thr376Met
NM_001354801.1:c.116C>T NP_001341730.1:p.Thr39Met
NM_001354802.1:c.-14C>T NP_001341731.1:n.-14C>T
NM_001354803.1:c.161C>T NP_001341732.1:p.Thr54Met
NM_033507.2:c.1130C>T NP_277042.1:p.Thr377Met
NM_033508.2:c.1124C>T NP_277043.1:p.Thr375Met
XM_024446707.1:c.-14C>T XP_024302475.1:n.-14C>T
NM_000162.5:c.1127C>T MANE Select NP_000153.1:p.Thr376Met
NM_033507.3:c.1130C>T NP_277042.1:p.Thr377Met
NM_033508.3:c.1124C>T NP_277043.1:p.Thr375Met
NM_001354803.2:c.161C>T NP_001341732.1:p.Thr54Met