Canonical Allele Identifier: CA2682579295
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44144914-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44144914T>C , CM000669.2:g.44144914T>C GRCh38
NC_000007.13:g.44184513T>C , CM000669.1:g.44184513T>C GRCh37
NC_000007.12:g.44151038T>C NCBI36
NG_008847.1:g.49510A>G
NG_008847.2:g.58257A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1618A>G ENSP00000379142.4:n.*1618A>G
ENST00000616242.5:c.*740A>G ENSP00000482149.2:n.*740A>G
ENST00000683378.1:n.846A>G
ENST00000336642.9:c.*222A>G ENSP00000338009.5:n.*222A>G
ENST00000345378.7:c.*222A>G ENSP00000223366.2:n.*222A>G
ENST00000403799.8:c.*222A>G MANE Select ENSP00000384247.3:n.*222A>G
ENST00000671824.1:c.*222A>G ENSP00000500264.1:n.*222A>G
ENST00000672743.1:n.381+251A>G
ENST00000673284.1:c.1369+251A>G ENSP00000499852.1:n.1369+251A>G
ENST00000336642.8:c.672A>G ENSP00000338009.4:n.672A>G
ENST00000345378.6:c.*222A>G ENSP00000223366.2:n.*222A>G
ENST00000395796.7:c.*222A>G ENSP00000379142.3:n.*222A>G
ENST00000403799.7:c.*222A>G ENSP00000384247.3:n.*222A>G
ENST00000459642.1:n.1000A>G
ENST00000616242.4:c.1617A>G ENSP00000482149.1:n.1617A>G
NM_000162.3:c.*222A>G NP_000153.1:n.*222A>G
NM_033507.1:c.*222A>G NP_277042.1:n.*222A>G
NM_033508.1:c.*222A>G NP_277043.1:n.*222A>G
NM_000162.4:c.*222A>G NP_000153.1:n.*222A>G
NM_001354800.1:c.1369+251A>G NP_001341729.1:n.1369+251A>G
NM_001354801.1:c.*222A>G NP_001341730.1:n.*222A>G
NM_001354802.1:c.229+251A>G NP_001341731.1:n.229+251A>G
NM_001354803.1:c.*222A>G NP_001341732.1:n.*222A>G
NM_033507.2:c.*222A>G NP_277042.1:n.*222A>G
NM_033508.2:c.*222A>G NP_277043.1:n.*222A>G
XM_024446707.1:c.*222A>G XP_024302475.1:n.*222A>G
NM_000162.5:c.*222A>G MANE Select NP_000153.1:n.*222A>G
NM_033507.3:c.*222A>G NP_277042.1:n.*222A>G
NM_033508.3:c.*222A>G NP_277043.1:n.*222A>G
NM_001354803.2:c.*222A>G NP_001341732.1:n.*222A>G
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