Canonical Allele Identifier: CA367398536
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2578359
ClinVar RCV Id: RCV003326085

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145561G>C , CM000669.2:g.44145561G>C GRCh38
NC_000007.13:g.44185160G>C , CM000669.1:g.44185160G>C GRCh37
NC_000007.12:g.44151685G>C NCBI36
NG_008847.1:g.48863C>G
NG_008847.2:g.57610C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1187C>G ENSP00000379142.4:n.*1187C>G
ENST00000616242.5:c.*309C>G ENSP00000482149.2:n.*309C>G
ENST00000683378.1:n.415C>G
ENST00000336642.9:c.223C>G ENSP00000338009.5:p.Arg75Gly
ENST00000345378.7:c.1192C>G ENSP00000223366.2:p.Arg398Gly
ENST00000403799.8:c.1189C>G MANE Select ENSP00000384247.3:p.Arg397Gly
ENST00000671824.1:c.1252C>G ENSP00000500264.1:p.Arg418Gly
ENST00000672743.1:n.201C>G
ENST00000673284.1:c.1189C>G ENSP00000499852.1:p.Arg397Gly
ENST00000336642.8:c.241C>G ENSP00000338009.4:p.Arg81Gly
ENST00000345378.6:c.1192C>G ENSP00000223366.2:p.Arg398Gly
ENST00000395796.7:c.1186C>G ENSP00000379142.3:p.Arg396Gly
ENST00000403799.7:c.1189C>G ENSP00000384247.3:p.Arg397Gly
ENST00000437084.1:c.1138C>G ENSP00000402840.1:p.Arg380Gly
ENST00000459642.1:n.569C>G
ENST00000616242.4:c.1186C>G ENSP00000482149.1:p.Arg396Gly
NM_000162.3:c.1189C>G NP_000153.1:p.Arg397Gly
NM_033507.1:c.1192C>G NP_277042.1:p.Arg398Gly
NM_033508.1:c.1186C>G NP_277043.1:p.Arg396Gly
NM_000162.4:c.1189C>G NP_000153.1:p.Arg397Gly
NM_001354800.1:c.1189C>G NP_001341729.1:p.Arg397Gly
NM_001354801.1:c.178C>G NP_001341730.1:p.Arg60Gly
NM_001354802.1:c.49C>G NP_001341731.1:p.Arg17Gly
NM_001354803.1:c.223C>G NP_001341732.1:p.Arg75Gly
NM_033507.2:c.1192C>G NP_277042.1:p.Arg398Gly
NM_033508.2:c.1186C>G NP_277043.1:p.Arg396Gly
XM_024446707.1:c.49C>G XP_024302475.1:p.Arg17Gly
NM_000162.5:c.1189C>G MANE Select NP_000153.1:p.Arg397Gly
NM_033507.3:c.1192C>G NP_277042.1:p.Arg398Gly
NM_033508.3:c.1186C>G NP_277043.1:p.Arg396Gly
NM_001354803.2:c.223C>G NP_001341732.1:p.Arg75Gly