Canonical Allele Identifier: CA1100772512
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2096270029
gnomAD v3: 7-44144969-A-C
gnomAD v4: 7-44144969-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44144969A>C , CM000669.2:g.44144969A>C GRCh38
NC_000007.13:g.44184568A>C , CM000669.1:g.44184568A>C GRCh37
NC_000007.12:g.44151093A>C NCBI36
NG_008847.1:g.49455T>G
NG_008847.2:g.58202T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1563T>G ENSP00000379142.4:n.*1563T>G
ENST00000616242.5:c.*685T>G ENSP00000482149.2:n.*685T>G
ENST00000683378.1:n.791T>G
ENST00000336642.9:c.*167T>G ENSP00000338009.5:n.*167T>G
ENST00000345378.7:c.*167T>G ENSP00000223366.2:n.*167T>G
ENST00000403799.8:c.*167T>G MANE Select ENSP00000384247.3:n.*167T>G
ENST00000671824.1:c.*167T>G ENSP00000500264.1:n.*167T>G
ENST00000672743.1:n.381+196T>G
ENST00000673284.1:c.1369+196T>G ENSP00000499852.1:n.1369+196T>G
ENST00000336642.8:c.617T>G ENSP00000338009.4:n.617T>G
ENST00000345378.6:c.*167T>G ENSP00000223366.2:n.*167T>G
ENST00000395796.7:c.*167T>G ENSP00000379142.3:n.*167T>G
ENST00000403799.7:c.*167T>G ENSP00000384247.3:n.*167T>G
ENST00000459642.1:n.945T>G
ENST00000616242.4:c.1562T>G ENSP00000482149.1:n.1562T>G
NM_000162.3:c.*167T>G NP_000153.1:n.*167T>G
NM_033507.1:c.*167T>G NP_277042.1:n.*167T>G
NM_033508.1:c.*167T>G NP_277043.1:n.*167T>G
NM_000162.4:c.*167T>G NP_000153.1:n.*167T>G
NM_001354800.1:c.1369+196T>G NP_001341729.1:n.1369+196T>G
NM_001354801.1:c.*167T>G NP_001341730.1:n.*167T>G
NM_001354802.1:c.229+196T>G NP_001341731.1:n.229+196T>G
NM_001354803.1:c.*167T>G NP_001341732.1:n.*167T>G
NM_033507.2:c.*167T>G NP_277042.1:n.*167T>G
NM_033508.2:c.*167T>G NP_277043.1:n.*167T>G
XM_024446707.1:c.*167T>G XP_024302475.1:n.*167T>G
NM_000162.5:c.*167T>G MANE Select NP_000153.1:n.*167T>G
NM_033507.3:c.*167T>G NP_277042.1:n.*167T>G
NM_033508.3:c.*167T>G NP_277043.1:n.*167T>G
NM_001354803.2:c.*167T>G NP_001341732.1:n.*167T>G
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