Canonical Allele Identifier: CA367398699
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 3233999
ClinVar RCV Id: RCV004527575

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145593A>C , CM000669.2:g.44145593A>C GRCh38
NC_000007.13:g.44185192A>C , CM000669.1:g.44185192A>C GRCh37
NC_000007.12:g.44151717A>C NCBI36
NG_008847.1:g.48831T>G
NG_008847.2:g.57578T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1155T>G ENSP00000379142.4:n.*1155T>G
ENST00000616242.5:c.*277T>G ENSP00000482149.2:n.*277T>G
ENST00000683378.1:n.383T>G
ENST00000336642.9:c.191T>G ENSP00000338009.5:p.Leu64Arg
ENST00000345378.7:c.1160T>G ENSP00000223366.2:p.Leu387Arg
ENST00000403799.8:c.1157T>G MANE Select ENSP00000384247.3:p.Leu386Arg
ENST00000671824.1:c.1220T>G ENSP00000500264.1:p.Leu407Arg
ENST00000672743.1:n.169T>G
ENST00000673284.1:c.1157T>G ENSP00000499852.1:p.Leu386Arg
ENST00000336642.8:c.209T>G ENSP00000338009.4:p.Leu70Arg
ENST00000345378.6:c.1160T>G ENSP00000223366.2:p.Leu387Arg
ENST00000395796.7:c.1154T>G ENSP00000379142.3:p.Leu385Arg
ENST00000403799.7:c.1157T>G ENSP00000384247.3:p.Leu386Arg
ENST00000437084.1:c.1106T>G ENSP00000402840.1:p.Leu369Arg
ENST00000459642.1:n.537T>G
ENST00000616242.4:c.1154T>G ENSP00000482149.1:p.Leu385Arg
NM_000162.3:c.1157T>G NP_000153.1:p.Leu386Arg
NM_033507.1:c.1160T>G NP_277042.1:p.Leu387Arg
NM_033508.1:c.1154T>G NP_277043.1:p.Leu385Arg
NM_000162.4:c.1157T>G NP_000153.1:p.Leu386Arg
NM_001354800.1:c.1157T>G NP_001341729.1:p.Leu386Arg
NM_001354801.1:c.146T>G NP_001341730.1:p.Leu49Arg
NM_001354802.1:c.17T>G NP_001341731.1:p.Leu6Arg
NM_001354803.1:c.191T>G NP_001341732.1:p.Leu64Arg
NM_033507.2:c.1160T>G NP_277042.1:p.Leu387Arg
NM_033508.2:c.1154T>G NP_277043.1:p.Leu385Arg
XM_024446707.1:c.17T>G XP_024302475.1:p.Leu6Arg
NM_000162.5:c.1157T>G MANE Select NP_000153.1:p.Leu386Arg
NM_033507.3:c.1160T>G NP_277042.1:p.Leu387Arg
NM_033508.3:c.1154T>G NP_277043.1:p.Leu385Arg
NM_001354803.2:c.191T>G NP_001341732.1:p.Leu64Arg