Canonical Allele Identifier: CA367398780
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1098819
dbSNP Id: rs2128819280

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145611T>G , CM000669.2:g.44145611T>G GRCh38
NC_000007.13:g.44185210T>G , CM000669.1:g.44185210T>G GRCh37
NC_000007.12:g.44151735T>G NCBI36
NG_008847.1:g.48813A>C
NG_008847.2:g.57560A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1137A>C ENSP00000379142.4:n.*1137A>C
ENST00000616242.5:c.*259A>C ENSP00000482149.2:n.*259A>C
ENST00000683378.1:n.365A>C
ENST00000336642.9:c.173A>C ENSP00000338009.5:p.His58Pro
ENST00000345378.7:c.1142A>C ENSP00000223366.2:p.His381Pro
ENST00000403799.8:c.1139A>C MANE Select ENSP00000384247.3:p.His380Pro
ENST00000671824.1:c.1202A>C ENSP00000500264.1:p.His401Pro
ENST00000672743.1:n.151A>C
ENST00000673284.1:c.1139A>C ENSP00000499852.1:p.His380Pro
ENST00000336642.8:c.191A>C ENSP00000338009.4:p.His64Pro
ENST00000345378.6:c.1142A>C ENSP00000223366.2:p.His381Pro
ENST00000395796.7:c.1136A>C ENSP00000379142.3:p.His379Pro
ENST00000403799.7:c.1139A>C ENSP00000384247.3:p.His380Pro
ENST00000437084.1:c.1088A>C ENSP00000402840.1:p.His363Pro
ENST00000459642.1:n.519A>C
ENST00000616242.4:c.1136A>C ENSP00000482149.1:p.His379Pro
NM_000162.3:c.1139A>C NP_000153.1:p.His380Pro
NM_033507.1:c.1142A>C NP_277042.1:p.His381Pro
NM_033508.1:c.1136A>C NP_277043.1:p.His379Pro
NM_000162.4:c.1139A>C NP_000153.1:p.His380Pro
NM_001354800.1:c.1139A>C NP_001341729.1:p.His380Pro
NM_001354801.1:c.128A>C NP_001341730.1:p.His43Pro
NM_001354802.1:c.-2A>C NP_001341731.1:n.-2A>C
NM_001354803.1:c.173A>C NP_001341732.1:p.His58Pro
NM_033507.2:c.1142A>C NP_277042.1:p.His381Pro
NM_033508.2:c.1136A>C NP_277043.1:p.His379Pro
XM_024446707.1:c.-2A>C XP_024302475.1:n.-2A>C
NM_000162.5:c.1139A>C MANE Select NP_000153.1:p.His380Pro
NM_033507.3:c.1142A>C NP_277042.1:p.His381Pro
NM_033508.3:c.1136A>C NP_277043.1:p.His379Pro
NM_001354803.2:c.173A>C NP_001341732.1:p.His58Pro