Canonical Allele Identifier: CA152950
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 129140
ClinVar RCV Id: RCV000117127
dbSNP Id: rs587780343

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145638C>A , CM000669.2:g.44145638C>A GRCh38
NC_000007.13:g.44185237C>A , CM000669.1:g.44185237C>A GRCh37
NC_000007.12:g.44151762C>A NCBI36
NG_008847.1:g.48786G>T
NG_008847.2:g.57533G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000336642.9:c.146G>T ENSP00000338009.5:p.Cys49Phe
ENST00000345378.7:c.1115G>T ENSP00000223366.2:p.Cys372Phe
ENST00000403799.8:c.1112G>T MANE Select ENSP00000384247.3:p.Cys371Phe
ENST00000671824.1:c.1175G>T ENSP00000500264.1:p.Cys392Phe
ENST00000672743.1:n.124G>T
ENST00000673284.1:c.1112G>T ENSP00000499852.1:p.Cys371Phe
ENST00000336642.8:n.164G>T ENSP00000338009.4:p.Cys55Phe
ENST00000345378.6:c.1115G>T ENSP00000223366.2:p.Cys372Phe
ENST00000395796.7:c.1109G>T ENSP00000379142.3:p.Cys370Phe
ENST00000403799.7:c.1112G>T ENSP00000384247.3:p.Cys371Phe
ENST00000437084.1:c.1061G>T ENSP00000402840.1:p.Cys354Phe
ENST00000459642.1:n.492G>T
ENST00000616242.4:n.1109G>T ENSP00000482149.1:p.Cys370Phe
NM_000162.3:c.1112G>T NP_000153.1:p.Cys371Phe
NM_033507.1:c.1115G>T NP_277042.1:p.Cys372Phe
NM_033508.1:c.1109G>T NP_277043.1:p.Cys370Phe
NM_000162.4:c.1112G>T NP_000153.1:p.Cys371Phe
NM_001354800.1:c.1112G>T NP_001341729.1:p.Cys371Phe
NM_001354801.1:c.101G>T NP_001341730.1:p.Cys34Phe
NM_001354802.1:c.-29G>T NP_001341731.1:p.=
NM_001354803.1:c.146G>T NP_001341732.1:p.Cys49Phe
NM_033507.2:c.1115G>T NP_277042.1:p.Cys372Phe
NM_033508.2:c.1109G>T NP_277043.1:p.Cys370Phe
XM_024446707.1:c.-29G>T XP_024302475.1:p.=
NM_000162.5:c.1112G>T MANE Select NP_000153.1:p.Cys371Phe
NM_033507.3:c.1115G>T NP_277042.1:p.Cys372Phe
NM_033508.3:c.1109G>T NP_277043.1:p.Cys370Phe
NM_001354803.2:c.146G>T NP_001341732.1:p.Cys49Phe