Canonical Allele Identifier: CA367398531
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145560C>G , CM000669.2:g.44145560C>G GRCh38
NC_000007.13:g.44185159C>G , CM000669.1:g.44185159C>G GRCh37
NC_000007.12:g.44151684C>G NCBI36
NG_008847.1:g.48864G>C
NG_008847.2:g.57611G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1188G>C ENSP00000379142.4:n.*1188G>C
ENST00000616242.5:c.*310G>C ENSP00000482149.2:n.*310G>C
ENST00000683378.1:n.416G>C
ENST00000336642.9:c.224G>C ENSP00000338009.5:p.Arg75Pro
ENST00000345378.7:c.1193G>C ENSP00000223366.2:p.Arg398Pro
ENST00000403799.8:c.1190G>C MANE Select ENSP00000384247.3:p.Arg397Pro
ENST00000671824.1:c.1253G>C ENSP00000500264.1:p.Arg418Pro
ENST00000672743.1:n.202G>C
ENST00000673284.1:c.1190G>C ENSP00000499852.1:p.Arg397Pro
ENST00000336642.8:c.242G>C ENSP00000338009.4:p.Arg81Pro
ENST00000345378.6:c.1193G>C ENSP00000223366.2:p.Arg398Pro
ENST00000395796.7:c.1187G>C ENSP00000379142.3:p.Arg396Pro
ENST00000403799.7:c.1190G>C ENSP00000384247.3:p.Arg397Pro
ENST00000437084.1:c.1139G>C ENSP00000402840.1:p.Arg380Pro
ENST00000459642.1:n.570G>C
ENST00000616242.4:c.1187G>C ENSP00000482149.1:p.Arg396Pro
NM_000162.3:c.1190G>C NP_000153.1:p.Arg397Pro
NM_033507.1:c.1193G>C NP_277042.1:p.Arg398Pro
NM_033508.1:c.1187G>C NP_277043.1:p.Arg396Pro
NM_000162.4:c.1190G>C NP_000153.1:p.Arg397Pro
NM_001354800.1:c.1190G>C NP_001341729.1:p.Arg397Pro
NM_001354801.1:c.179G>C NP_001341730.1:p.Arg60Pro
NM_001354802.1:c.50G>C NP_001341731.1:p.Arg17Pro
NM_001354803.1:c.224G>C NP_001341732.1:p.Arg75Pro
NM_033507.2:c.1193G>C NP_277042.1:p.Arg398Pro
NM_033508.2:c.1187G>C NP_277043.1:p.Arg396Pro
XM_024446707.1:c.50G>C XP_024302475.1:p.Arg17Pro
NM_000162.5:c.1190G>C MANE Select NP_000153.1:p.Arg397Pro
NM_033507.3:c.1193G>C NP_277042.1:p.Arg398Pro
NM_033508.3:c.1187G>C NP_277043.1:p.Arg396Pro
NM_001354803.2:c.224G>C NP_001341732.1:p.Arg75Pro