Canonical Allele Identifier: CA2682579929
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145053-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145053C>G , CM000669.2:g.44145053C>G GRCh38
NC_000007.13:g.44184652C>G , CM000669.1:g.44184652C>G GRCh37
NC_000007.12:g.44151177C>G NCBI36
NG_008847.1:g.49371G>C
NG_008847.2:g.58118G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1479G>C ENSP00000379142.4:n.*1479G>C
ENST00000616242.5:c.*601G>C ENSP00000482149.2:n.*601G>C
ENST00000683378.1:n.707G>C
ENST00000336642.9:c.*83G>C ENSP00000338009.5:n.*83G>C
ENST00000345378.7:c.*83G>C ENSP00000223366.2:n.*83G>C
ENST00000403799.8:c.*83G>C MANE Select ENSP00000384247.3:n.*83G>C
ENST00000671824.1:c.*83G>C ENSP00000500264.1:n.*83G>C
ENST00000672743.1:n.381+112G>C
ENST00000673284.1:c.1369+112G>C ENSP00000499852.1:n.1369+112G>C
ENST00000336642.8:c.533G>C ENSP00000338009.4:n.533G>C
ENST00000345378.6:c.*83G>C ENSP00000223366.2:n.*83G>C
ENST00000395796.7:c.*83G>C ENSP00000379142.3:n.*83G>C
ENST00000403799.7:c.*83G>C ENSP00000384247.3:n.*83G>C
ENST00000459642.1:n.861G>C
ENST00000616242.4:c.1478G>C ENSP00000482149.1:n.1478G>C
NM_000162.3:c.*83G>C NP_000153.1:n.*83G>C
NM_033507.1:c.*83G>C NP_277042.1:n.*83G>C
NM_033508.1:c.*83G>C NP_277043.1:n.*83G>C
NM_000162.4:c.*83G>C NP_000153.1:n.*83G>C
NM_001354800.1:c.1369+112G>C NP_001341729.1:n.1369+112G>C
NM_001354801.1:c.*83G>C NP_001341730.1:n.*83G>C
NM_001354802.1:c.229+112G>C NP_001341731.1:n.229+112G>C
NM_001354803.1:c.*83G>C NP_001341732.1:n.*83G>C
NM_033507.2:c.*83G>C NP_277042.1:n.*83G>C
NM_033508.2:c.*83G>C NP_277043.1:n.*83G>C
XM_024446707.1:c.*83G>C XP_024302475.1:n.*83G>C
NM_000162.5:c.*83G>C MANE Select NP_000153.1:n.*83G>C
NM_033507.3:c.*83G>C NP_277042.1:n.*83G>C
NM_033508.3:c.*83G>C NP_277043.1:n.*83G>C
NM_001354803.2:c.*83G>C NP_001341732.1:n.*83G>C
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