Canonical Allele Identifier: CA157913729
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs866034131
gnomAD v4: 7-44145711-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145711G>A , CM000669.2:g.44145711G>A GRCh38
NC_000007.13:g.44185310G>A , CM000669.1:g.44185310G>A GRCh37
NC_000007.12:g.44151835G>A NCBI36
NG_008847.1:g.48713C>T
NG_008847.2:g.57460C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1037C>T ENSP00000379142.4:n.*1037C>T
ENST00000616242.5:c.*159C>T ENSP00000482149.2:n.*159C>T
ENST00000683378.1:n.265C>T
ENST00000336642.9:c.73C>T ENSP00000338009.5:p.Gln25Ter
ENST00000345378.7:c.1042C>T ENSP00000223366.2:p.Gln348Ter
ENST00000403799.8:c.1039C>T MANE Select ENSP00000384247.3:p.Gln347Ter
ENST00000671824.1:c.1102C>T ENSP00000500264.1:p.Gln368Ter
ENST00000672743.1:n.51C>T
ENST00000673284.1:c.1039C>T ENSP00000499852.1:p.Gln347Ter
ENST00000336642.8:c.91C>T ENSP00000338009.4:p.Gln31Ter
ENST00000345378.6:c.1042C>T ENSP00000223366.2:p.Gln348Ter
ENST00000395796.7:c.1036C>T ENSP00000379142.3:p.Gln346Ter
ENST00000403799.7:c.1039C>T ENSP00000384247.3:p.Gln347Ter
ENST00000437084.1:c.988C>T ENSP00000402840.1:p.Gln330Ter
ENST00000459642.1:n.419C>T
ENST00000473353.1:n.337C>T
ENST00000616242.4:c.1036C>T ENSP00000482149.1:p.Gln346Ter
NM_000162.3:c.1039C>T NP_000153.1:p.Gln347Ter
NM_033507.1:c.1042C>T NP_277042.1:p.Gln348Ter
NM_033508.1:c.1036C>T NP_277043.1:p.Gln346Ter
NM_000162.4:c.1039C>T NP_000153.1:p.Gln347Ter
NM_001354800.1:c.1039C>T NP_001341729.1:p.Gln347Ter
NM_001354801.1:c.28C>T NP_001341730.1:p.Gln10Ter
NM_001354802.1:c.-102C>T NP_001341731.1:n.-102C>T
NM_001354803.1:c.73C>T NP_001341732.1:p.Gln25Ter
NM_033507.2:c.1042C>T NP_277042.1:p.Gln348Ter
NM_033508.2:c.1036C>T NP_277043.1:p.Gln346Ter
XM_024446707.1:c.-102C>T XP_024302475.1:n.-102C>T
NM_000162.5:c.1039C>T MANE Select NP_000153.1:p.Gln347Ter
NM_033507.3:c.1042C>T NP_277042.1:p.Gln348Ter
NM_033508.3:c.1036C>T NP_277043.1:p.Gln346Ter
NM_001354803.2:c.73C>T NP_001341732.1:p.Gln25Ter