Canonical Allele Identifier: CA367397096
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145228T>G , CM000669.2:g.44145228T>G GRCh38
NC_000007.13:g.44184827T>G , CM000669.1:g.44184827T>G GRCh37
NC_000007.12:g.44151352T>G NCBI36
NG_008847.1:g.49196A>C
NG_008847.2:g.57943A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1304A>C ENSP00000379142.4:n.*1304A>C
ENST00000616242.5:c.*426A>C ENSP00000482149.2:n.*426A>C
ENST00000683378.1:n.532A>C
ENST00000336642.9:c.340A>C ENSP00000338009.5:p.Ile114Leu
ENST00000345378.7:c.1309A>C ENSP00000223366.2:p.Ile437Leu
ENST00000403799.8:c.1306A>C MANE Select ENSP00000384247.3:p.Ile436Leu
ENST00000671824.1:c.1369A>C ENSP00000500264.1:p.Ile457Leu
ENST00000672743.1:n.318A>C
ENST00000673284.1:c.1306A>C ENSP00000499852.1:p.Ile436Leu
ENST00000336642.8:c.358A>C ENSP00000338009.4:p.Ile120Leu
ENST00000345378.6:c.1309A>C ENSP00000223366.2:p.Ile437Leu
ENST00000395796.7:c.1303A>C ENSP00000379142.3:p.Ile435Leu
ENST00000403799.7:c.1306A>C ENSP00000384247.3:p.Ile436Leu
ENST00000437084.1:c.1255A>C ENSP00000402840.1:p.Ile419Leu
ENST00000459642.1:n.686A>C
ENST00000616242.4:c.1303A>C ENSP00000482149.1:p.Ile435Leu
NM_000162.3:c.1306A>C NP_000153.1:p.Ile436Leu
NM_033507.1:c.1309A>C NP_277042.1:p.Ile437Leu
NM_033508.1:c.1303A>C NP_277043.1:p.Ile435Leu
NM_000162.4:c.1306A>C NP_000153.1:p.Ile436Leu
NM_001354800.1:c.1306A>C NP_001341729.1:p.Ile436Leu
NM_001354801.1:c.295A>C NP_001341730.1:p.Ile99Leu
NM_001354802.1:c.166A>C NP_001341731.1:p.Ile56Leu
NM_001354803.1:c.340A>C NP_001341732.1:p.Ile114Leu
NM_033507.2:c.1309A>C NP_277042.1:p.Ile437Leu
NM_033508.2:c.1303A>C NP_277043.1:p.Ile435Leu
XM_024446707.1:c.166A>C XP_024302475.1:p.Ile56Leu
NM_000162.5:c.1306A>C MANE Select NP_000153.1:p.Ile436Leu
NM_033507.3:c.1309A>C NP_277042.1:p.Ile437Leu
NM_033508.3:c.1303A>C NP_277043.1:p.Ile435Leu
NM_001354803.2:c.340A>C NP_001341732.1:p.Ile114Leu