Canonical Allele Identifier: CA367399306
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145708T>G , CM000669.2:g.44145708T>G GRCh38
NC_000007.13:g.44185307T>G , CM000669.1:g.44185307T>G GRCh37
NC_000007.12:g.44151832T>G NCBI36
NG_008847.1:g.48716A>C
NG_008847.2:g.57463A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1040A>C ENSP00000379142.4:n.*1040A>C
ENST00000616242.5:c.*162A>C ENSP00000482149.2:n.*162A>C
ENST00000683378.1:n.268A>C
ENST00000336642.9:c.76A>C ENSP00000338009.5:p.Ile26Leu
ENST00000345378.7:c.1045A>C ENSP00000223366.2:p.Ile349Leu
ENST00000403799.8:c.1042A>C MANE Select ENSP00000384247.3:p.Ile348Leu
ENST00000671824.1:c.1105A>C ENSP00000500264.1:p.Ile369Leu
ENST00000672743.1:n.54A>C
ENST00000673284.1:c.1042A>C ENSP00000499852.1:p.Ile348Leu
ENST00000336642.8:c.94A>C ENSP00000338009.4:p.Ile32Leu
ENST00000345378.6:c.1045A>C ENSP00000223366.2:p.Ile349Leu
ENST00000395796.7:c.1039A>C ENSP00000379142.3:p.Ile347Leu
ENST00000403799.7:c.1042A>C ENSP00000384247.3:p.Ile348Leu
ENST00000437084.1:c.991A>C ENSP00000402840.1:p.Ile331Leu
ENST00000459642.1:n.422A>C
ENST00000473353.1:n.340A>C
ENST00000616242.4:c.1039A>C ENSP00000482149.1:p.Ile347Leu
NM_000162.3:c.1042A>C NP_000153.1:p.Ile348Leu
NM_033507.1:c.1045A>C NP_277042.1:p.Ile349Leu
NM_033508.1:c.1039A>C NP_277043.1:p.Ile347Leu
NM_000162.4:c.1042A>C NP_000153.1:p.Ile348Leu
NM_001354800.1:c.1042A>C NP_001341729.1:p.Ile348Leu
NM_001354801.1:c.31A>C NP_001341730.1:p.Ile11Leu
NM_001354802.1:c.-99A>C NP_001341731.1:n.-99A>C
NM_001354803.1:c.76A>C NP_001341732.1:p.Ile26Leu
NM_033507.2:c.1045A>C NP_277042.1:p.Ile349Leu
NM_033508.2:c.1039A>C NP_277043.1:p.Ile347Leu
XM_024446707.1:c.-99A>C XP_024302475.1:n.-99A>C
NM_000162.5:c.1042A>C MANE Select NP_000153.1:p.Ile348Leu
NM_033507.3:c.1045A>C NP_277042.1:p.Ile349Leu
NM_033508.3:c.1039A>C NP_277043.1:p.Ile347Leu
NM_001354803.2:c.76A>C NP_001341732.1:p.Ile26Leu