Canonical Allele Identifier: CA367396714
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2691823
ClinVar RCV Id: RCV003494020

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145136T>A , CM000669.2:g.44145136T>A GRCh38
NC_000007.13:g.44184735T>A , CM000669.1:g.44184735T>A GRCh37
NC_000007.12:g.44151260T>A NCBI36
NG_008847.1:g.49288A>T
NG_008847.2:g.58035A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1396A>T ENSP00000379142.4:n.*1396A>T
ENST00000616242.5:c.*518A>T ENSP00000482149.2:n.*518A>T
ENST00000683378.1:n.624A>T
ENST00000336642.9:c.432A>T ENSP00000338009.5:p.Ter144Cys
ENST00000345378.7:c.1401A>T ENSP00000223366.2:p.Ter467Cys
ENST00000403799.8:c.1398A>T MANE Select ENSP00000384247.3:p.Ter466Cys
ENST00000671824.1:c.1461A>T ENSP00000500264.1:p.Ter487Cys
ENST00000672743.1:n.381+29A>T
ENST00000673284.1:c.1369+29A>T ENSP00000499852.1:n.1369+29A>T
ENST00000336642.8:c.450A>T ENSP00000338009.4:p.Ter150Cys
ENST00000345378.6:c.1401A>T ENSP00000223366.2:p.Ter467Cys
ENST00000395796.7:c.1395A>T ENSP00000379142.3:p.Ter465Cys
ENST00000403799.7:c.1398A>T ENSP00000384247.3:p.Ter466Cys
ENST00000437084.1:c.1347A>T ENSP00000402840.1:p.Ter449Cys
ENST00000459642.1:n.778A>T
ENST00000616242.4:c.1395A>T ENSP00000482149.1:p.Ter465Cys
NM_000162.3:c.1398A>T NP_000153.1:p.Ter466Cys
NM_033507.1:c.1401A>T NP_277042.1:p.Ter467Cys
NM_033508.1:c.1395A>T NP_277043.1:p.Ter465Cys
NM_000162.4:c.1398A>T NP_000153.1:p.Ter466Cys
NM_001354800.1:c.1369+29A>T NP_001341729.1:n.1369+29A>T
NM_001354801.1:c.387A>T NP_001341730.1:p.Ter129Cys
NM_001354802.1:c.229+29A>T NP_001341731.1:n.229+29A>T
NM_001354803.1:c.432A>T NP_001341732.1:p.Ter144Cys
NM_033507.2:c.1401A>T NP_277042.1:p.Ter467Cys
NM_033508.2:c.1395A>T NP_277043.1:p.Ter465Cys
XM_024446707.1:c.258A>T XP_024302475.1:p.Ter86Cys
NM_000162.5:c.1398A>T MANE Select NP_000153.1:p.Ter466Cys
NM_033507.3:c.1401A>T NP_277042.1:p.Ter467Cys
NM_033508.3:c.1395A>T NP_277043.1:p.Ter465Cys
NM_001354803.2:c.432A>T NP_001341732.1:p.Ter144Cys