Canonical Allele Identifier: CA213717
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36177
dbSNP Id: rs193922265
gnomAD v4: 7-44145614-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145614G>T , CM000669.2:g.44145614G>T GRCh38
NC_000007.13:g.44185213G>T , CM000669.1:g.44185213G>T GRCh37
NC_000007.12:g.44151738G>T NCBI36
NG_008847.1:g.48810C>A
NG_008847.2:g.57557C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1134C>A ENSP00000379142.4:n.*1134C>A
ENST00000616242.5:c.*256C>A ENSP00000482149.2:n.*256C>A
ENST00000683378.1:n.362C>A
ENST00000336642.9:c.170C>A ENSP00000338009.5:p.Ala57Glu
ENST00000345378.7:c.1139C>A ENSP00000223366.2:p.Ala380Glu
ENST00000403799.8:c.1136C>A MANE Select ENSP00000384247.3:p.Ala379Glu
ENST00000671824.1:c.1199C>A ENSP00000500264.1:p.Ala400Glu
ENST00000672743.1:n.148C>A
ENST00000673284.1:c.1136C>A ENSP00000499852.1:p.Ala379Glu
ENST00000336642.8:c.188C>A ENSP00000338009.4:p.Ala63Glu
ENST00000345378.6:c.1139C>A ENSP00000223366.2:p.Ala380Glu
ENST00000395796.7:c.1133C>A ENSP00000379142.3:p.Ala378Glu
ENST00000403799.7:c.1136C>A ENSP00000384247.3:p.Ala379Glu
ENST00000437084.1:c.1085C>A ENSP00000402840.1:p.Ala362Glu
ENST00000459642.1:n.516C>A
ENST00000616242.4:c.1133C>A ENSP00000482149.1:p.Ala378Glu
NM_000162.3:c.1136C>A NP_000153.1:p.Ala379Glu
NM_033507.1:c.1139C>A NP_277042.1:p.Ala380Glu
NM_033508.1:c.1133C>A NP_277043.1:p.Ala378Glu
NM_000162.4:c.1136C>A NP_000153.1:p.Ala379Glu
NM_001354800.1:c.1136C>A NP_001341729.1:p.Ala379Glu
NM_001354801.1:c.125C>A NP_001341730.1:p.Ala42Glu
NM_001354802.1:c.-5C>A NP_001341731.1:n.-5C>A
NM_001354803.1:c.170C>A NP_001341732.1:p.Ala57Glu
NM_033507.2:c.1139C>A NP_277042.1:p.Ala380Glu
NM_033508.2:c.1133C>A NP_277043.1:p.Ala378Glu
XM_024446707.1:c.-5C>A XP_024302475.1:n.-5C>A
NM_000162.5:c.1136C>A MANE Select NP_000153.1:p.Ala379Glu
NM_033507.3:c.1139C>A NP_277042.1:p.Ala380Glu
NM_033508.3:c.1133C>A NP_277043.1:p.Ala378Glu
NM_001354803.2:c.170C>A NP_001341732.1:p.Ala57Glu