Canonical Allele Identifier: CA367398911
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145634-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145634C>G , CM000669.2:g.44145634C>G GRCh38
NC_000007.13:g.44185233C>G , CM000669.1:g.44185233C>G GRCh37
NC_000007.12:g.44151758C>G NCBI36
NG_008847.1:g.48790G>C
NG_008847.2:g.57537G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1114G>C ENSP00000379142.4:n.*1114G>C
ENST00000616242.5:c.*236G>C ENSP00000482149.2:n.*236G>C
ENST00000683378.1:n.342G>C
ENST00000336642.9:c.150G>C ENSP00000338009.5:p.Glu50Asp
ENST00000345378.7:c.1119G>C ENSP00000223366.2:p.Glu373Asp
ENST00000403799.8:c.1116G>C MANE Select ENSP00000384247.3:p.Glu372Asp
ENST00000671824.1:c.1179G>C ENSP00000500264.1:p.Glu393Asp
ENST00000672743.1:n.128G>C
ENST00000673284.1:c.1116G>C ENSP00000499852.1:p.Glu372Asp
ENST00000336642.8:c.168G>C ENSP00000338009.4:p.Glu56Asp
ENST00000345378.6:c.1119G>C ENSP00000223366.2:p.Glu373Asp
ENST00000395796.7:c.1113G>C ENSP00000379142.3:p.Glu371Asp
ENST00000403799.7:c.1116G>C ENSP00000384247.3:p.Glu372Asp
ENST00000437084.1:c.1065G>C ENSP00000402840.1:p.Glu355Asp
ENST00000459642.1:n.496G>C
ENST00000616242.4:c.1113G>C ENSP00000482149.1:p.Glu371Asp
NM_000162.3:c.1116G>C NP_000153.1:p.Glu372Asp
NM_033507.1:c.1119G>C NP_277042.1:p.Glu373Asp
NM_033508.1:c.1113G>C NP_277043.1:p.Glu371Asp
NM_000162.4:c.1116G>C NP_000153.1:p.Glu372Asp
NM_001354800.1:c.1116G>C NP_001341729.1:p.Glu372Asp
NM_001354801.1:c.105G>C NP_001341730.1:p.Glu35Asp
NM_001354802.1:c.-25G>C NP_001341731.1:n.-25G>C
NM_001354803.1:c.150G>C NP_001341732.1:p.Glu50Asp
NM_033507.2:c.1119G>C NP_277042.1:p.Glu373Asp
NM_033508.2:c.1113G>C NP_277043.1:p.Glu371Asp
XM_024446707.1:c.-25G>C XP_024302475.1:n.-25G>C
NM_000162.5:c.1116G>C MANE Select NP_000153.1:p.Glu372Asp
NM_033507.3:c.1119G>C NP_277042.1:p.Glu373Asp
NM_033508.3:c.1113G>C NP_277043.1:p.Glu371Asp
NM_001354803.2:c.150G>C NP_001341732.1:p.Glu50Asp