Canonical Allele Identifier: CA367397119
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145233C>A , CM000669.2:g.44145233C>A GRCh38
NC_000007.13:g.44184832C>A , CM000669.1:g.44184832C>A GRCh37
NC_000007.12:g.44151357C>A NCBI36
NG_008847.1:g.49191G>T
NG_008847.2:g.57938G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1299G>T ENSP00000379142.4:n.*1299G>T
ENST00000616242.5:c.*421G>T ENSP00000482149.2:n.*421G>T
ENST00000683378.1:n.527G>T
ENST00000336642.9:c.335G>T ENSP00000338009.5:p.Cys112Phe
ENST00000345378.7:c.1304G>T ENSP00000223366.2:p.Cys435Phe
ENST00000403799.8:c.1301G>T MANE Select ENSP00000384247.3:p.Cys434Phe
ENST00000671824.1:c.1364G>T ENSP00000500264.1:p.Cys455Phe
ENST00000672743.1:n.313G>T
ENST00000673284.1:c.1301G>T ENSP00000499852.1:p.Cys434Phe
ENST00000336642.8:c.353G>T ENSP00000338009.4:p.Cys118Phe
ENST00000345378.6:c.1304G>T ENSP00000223366.2:p.Cys435Phe
ENST00000395796.7:c.1298G>T ENSP00000379142.3:p.Cys433Phe
ENST00000403799.7:c.1301G>T ENSP00000384247.3:p.Cys434Phe
ENST00000437084.1:c.1250G>T ENSP00000402840.1:p.Cys417Phe
ENST00000459642.1:n.681G>T
ENST00000616242.4:c.1298G>T ENSP00000482149.1:p.Cys433Phe
NM_000162.3:c.1301G>T NP_000153.1:p.Cys434Phe
NM_033507.1:c.1304G>T NP_277042.1:p.Cys435Phe
NM_033508.1:c.1298G>T NP_277043.1:p.Cys433Phe
NM_000162.4:c.1301G>T NP_000153.1:p.Cys434Phe
NM_001354800.1:c.1301G>T NP_001341729.1:p.Cys434Phe
NM_001354801.1:c.290G>T NP_001341730.1:p.Cys97Phe
NM_001354802.1:c.161G>T NP_001341731.1:p.Cys54Phe
NM_001354803.1:c.335G>T NP_001341732.1:p.Cys112Phe
NM_033507.2:c.1304G>T NP_277042.1:p.Cys435Phe
NM_033508.2:c.1298G>T NP_277043.1:p.Cys433Phe
XM_024446707.1:c.161G>T XP_024302475.1:p.Cys54Phe
NM_000162.5:c.1301G>T MANE Select NP_000153.1:p.Cys434Phe
NM_033507.3:c.1304G>T NP_277042.1:p.Cys435Phe
NM_033508.3:c.1298G>T NP_277043.1:p.Cys433Phe
NM_001354803.2:c.335G>T NP_001341732.1:p.Cys112Phe