Canonical Allele Identifier: CA367398781
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2128819280
gnomAD v4: 7-44145611-T-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1137A>G ENSP00000379142.4:n.*1137A>G
ENST00000616242.5:c.*259A>G ENSP00000482149.2:n.*259A>G
ENST00000683378.1:n.365A>G
ENST00000336642.9:c.173A>G ENSP00000338009.5:p.His58Arg
ENST00000345378.7:c.1142A>G ENSP00000223366.2:p.His381Arg
ENST00000403799.8:c.1139A>G MANE Select ENSP00000384247.3:p.His380Arg
ENST00000671824.1:c.1202A>G ENSP00000500264.1:p.His401Arg
ENST00000672743.1:n.151A>G
ENST00000673284.1:c.1139A>G ENSP00000499852.1:p.His380Arg
ENST00000336642.8:c.191A>G ENSP00000338009.4:p.His64Arg
ENST00000345378.6:c.1142A>G ENSP00000223366.2:p.His381Arg
ENST00000395796.7:c.1136A>G ENSP00000379142.3:p.His379Arg
ENST00000403799.7:c.1139A>G ENSP00000384247.3:p.His380Arg
ENST00000437084.1:c.1088A>G ENSP00000402840.1:p.His363Arg
ENST00000459642.1:n.519A>G
ENST00000616242.4:c.1136A>G ENSP00000482149.1:p.His379Arg
NM_000162.3:c.1139A>G NP_000153.1:p.His380Arg
NM_033507.1:c.1142A>G NP_277042.1:p.His381Arg
NM_033508.1:c.1136A>G NP_277043.1:p.His379Arg
NM_000162.4:c.1139A>G NP_000153.1:p.His380Arg
NM_001354800.1:c.1139A>G NP_001341729.1:p.His380Arg
NM_001354801.1:c.128A>G NP_001341730.1:p.His43Arg
NM_001354802.1:c.-2A>G NP_001341731.1:n.-2A>G
NM_001354803.1:c.173A>G NP_001341732.1:p.His58Arg
NM_033507.2:c.1142A>G NP_277042.1:p.His381Arg
NM_033508.2:c.1136A>G NP_277043.1:p.His379Arg
XM_024446707.1:c.-2A>G XP_024302475.1:n.-2A>G
NM_000162.5:c.1139A>G MANE Select NP_000153.1:p.His380Arg
NM_033507.3:c.1142A>G NP_277042.1:p.His381Arg
NM_033508.3:c.1136A>G NP_277043.1:p.His379Arg
NM_001354803.2:c.173A>G NP_001341732.1:p.His58Arg