Canonical Allele Identifier: CA367398265
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145512-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145512T>C , CM000669.2:g.44145512T>C GRCh38
NC_000007.13:g.44185111T>C , CM000669.1:g.44185111T>C GRCh37
NC_000007.12:g.44151636T>C NCBI36
NG_008847.1:g.48912A>G
NG_008847.2:g.57659A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1236A>G ENSP00000379142.4:n.*1236A>G
ENST00000616242.5:c.*358A>G ENSP00000482149.2:n.*358A>G
ENST00000683378.1:n.464A>G
ENST00000336642.9:c.272A>G ENSP00000338009.5:p.Tyr91Cys
ENST00000345378.7:c.1241A>G ENSP00000223366.2:p.Tyr414Cys
ENST00000403799.8:c.1238A>G MANE Select ENSP00000384247.3:p.Tyr413Cys
ENST00000671824.1:c.1301A>G ENSP00000500264.1:p.Tyr434Cys
ENST00000672743.1:n.250A>G
ENST00000673284.1:c.1238A>G ENSP00000499852.1:p.Tyr413Cys
ENST00000336642.8:c.290A>G ENSP00000338009.4:p.Tyr97Cys
ENST00000345378.6:c.1241A>G ENSP00000223366.2:p.Tyr414Cys
ENST00000395796.7:c.1235A>G ENSP00000379142.3:p.Tyr412Cys
ENST00000403799.7:c.1238A>G ENSP00000384247.3:p.Tyr413Cys
ENST00000437084.1:c.1187A>G ENSP00000402840.1:p.Tyr396Cys
ENST00000459642.1:n.618A>G
ENST00000616242.4:c.1235A>G ENSP00000482149.1:p.Tyr412Cys
NM_000162.3:c.1238A>G NP_000153.1:p.Tyr413Cys
NM_033507.1:c.1241A>G NP_277042.1:p.Tyr414Cys
NM_033508.1:c.1235A>G NP_277043.1:p.Tyr412Cys
NM_000162.4:c.1238A>G NP_000153.1:p.Tyr413Cys
NM_001354800.1:c.1238A>G NP_001341729.1:p.Tyr413Cys
NM_001354801.1:c.227A>G NP_001341730.1:p.Tyr76Cys
NM_001354802.1:c.98A>G NP_001341731.1:p.Tyr33Cys
NM_001354803.1:c.272A>G NP_001341732.1:p.Tyr91Cys
NM_033507.2:c.1241A>G NP_277042.1:p.Tyr414Cys
NM_033508.2:c.1235A>G NP_277043.1:p.Tyr412Cys
XM_024446707.1:c.98A>G XP_024302475.1:p.Tyr33Cys
NM_000162.5:c.1238A>G MANE Select NP_000153.1:p.Tyr413Cys
NM_033507.3:c.1241A>G NP_277042.1:p.Tyr414Cys
NM_033508.3:c.1235A>G NP_277043.1:p.Tyr412Cys
NM_001354803.2:c.272A>G NP_001341732.1:p.Tyr91Cys