Canonical Allele Identifier: CA213713
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36175
dbSNP Id: rs193922263

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145626G>A , CM000669.2:g.44145626G>A GRCh38
NC_000007.13:g.44185225G>A , CM000669.1:g.44185225G>A GRCh37
NC_000007.12:g.44151750G>A NCBI36
NG_008847.1:g.48798C>T
NG_008847.2:g.57545C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*1122C>T ENSP00000379142.4:n.*1122C>T
ENST00000616242.5:c.*244C>T ENSP00000482149.2:n.*244C>T
ENST00000683378.1:n.350C>T
ENST00000336642.9:c.158C>T ENSP00000338009.5:p.Ser53Phe
ENST00000345378.7:c.1127C>T ENSP00000223366.2:p.Ser376Phe
ENST00000403799.8:c.1124C>T MANE Select ENSP00000384247.3:p.Ser375Phe
ENST00000671824.1:c.1187C>T ENSP00000500264.1:p.Ser396Phe
ENST00000672743.1:n.136C>T
ENST00000673284.1:c.1124C>T ENSP00000499852.1:p.Ser375Phe
ENST00000336642.8:c.176C>T ENSP00000338009.4:p.Ser59Phe
ENST00000345378.6:c.1127C>T ENSP00000223366.2:p.Ser376Phe
ENST00000395796.7:c.1121C>T ENSP00000379142.3:p.Ser374Phe
ENST00000403799.7:c.1124C>T ENSP00000384247.3:p.Ser375Phe
ENST00000437084.1:c.1073C>T ENSP00000402840.1:p.Ser358Phe
ENST00000459642.1:n.504C>T
ENST00000616242.4:c.1121C>T ENSP00000482149.1:p.Ser374Phe
NM_000162.3:c.1124C>T NP_000153.1:p.Ser375Phe
NM_033507.1:c.1127C>T NP_277042.1:p.Ser376Phe
NM_033508.1:c.1121C>T NP_277043.1:p.Ser374Phe
NM_000162.4:c.1124C>T NP_000153.1:p.Ser375Phe
NM_001354800.1:c.1124C>T NP_001341729.1:p.Ser375Phe
NM_001354801.1:c.113C>T NP_001341730.1:p.Ser38Phe
NM_001354802.1:c.-17C>T NP_001341731.1:n.-17C>T
NM_001354803.1:c.158C>T NP_001341732.1:p.Ser53Phe
NM_033507.2:c.1127C>T NP_277042.1:p.Ser376Phe
NM_033508.2:c.1121C>T NP_277043.1:p.Ser374Phe
XM_024446707.1:c.-17C>T XP_024302475.1:n.-17C>T
NM_000162.5:c.1124C>T MANE Select NP_000153.1:p.Ser375Phe
NM_033507.3:c.1127C>T NP_277042.1:p.Ser376Phe
NM_033508.3:c.1121C>T NP_277043.1:p.Ser374Phe
NM_001354803.2:c.158C>T NP_001341732.1:p.Ser53Phe