Canonical Allele Identifier: CA367399290
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145705-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145705A>G , CM000669.2:g.44145705A>G GRCh38
NC_000007.13:g.44185304A>G , CM000669.1:g.44185304A>G GRCh37
NC_000007.12:g.44151829A>G NCBI36
NG_008847.1:g.48719T>C
NG_008847.2:g.57466T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1043T>C ENSP00000379142.4:n.*1043T>C
ENST00000616242.5:c.*165T>C ENSP00000482149.2:n.*165T>C
ENST00000683378.1:n.271T>C
ENST00000336642.9:c.79T>C ENSP00000338009.5:p.Tyr27His
ENST00000345378.7:c.1048T>C ENSP00000223366.2:p.Tyr350His
ENST00000403799.8:c.1045T>C MANE Select ENSP00000384247.3:p.Tyr349His
ENST00000671824.1:c.1108T>C ENSP00000500264.1:p.Tyr370His
ENST00000672743.1:n.57T>C
ENST00000673284.1:c.1045T>C ENSP00000499852.1:p.Tyr349His
ENST00000336642.8:c.97T>C ENSP00000338009.4:p.Tyr33His
ENST00000345378.6:c.1048T>C ENSP00000223366.2:p.Tyr350His
ENST00000395796.7:c.1042T>C ENSP00000379142.3:p.Tyr348His
ENST00000403799.7:c.1045T>C ENSP00000384247.3:p.Tyr349His
ENST00000437084.1:c.994T>C ENSP00000402840.1:p.Tyr332His
ENST00000459642.1:n.425T>C
ENST00000473353.1:n.343T>C
ENST00000616242.4:c.1042T>C ENSP00000482149.1:p.Tyr348His
NM_000162.3:c.1045T>C NP_000153.1:p.Tyr349His
NM_033507.1:c.1048T>C NP_277042.1:p.Tyr350His
NM_033508.1:c.1042T>C NP_277043.1:p.Tyr348His
NM_000162.4:c.1045T>C NP_000153.1:p.Tyr349His
NM_001354800.1:c.1045T>C NP_001341729.1:p.Tyr349His
NM_001354801.1:c.34T>C NP_001341730.1:p.Tyr12His
NM_001354802.1:c.-96T>C NP_001341731.1:n.-96T>C
NM_001354803.1:c.79T>C NP_001341732.1:p.Tyr27His
NM_033507.2:c.1048T>C NP_277042.1:p.Tyr350His
NM_033508.2:c.1042T>C NP_277043.1:p.Tyr348His
XM_024446707.1:c.-96T>C XP_024302475.1:n.-96T>C
NM_000162.5:c.1045T>C MANE Select NP_000153.1:p.Tyr349His
NM_033507.3:c.1048T>C NP_277042.1:p.Tyr350His
NM_033508.3:c.1042T>C NP_277043.1:p.Tyr348His
NM_001354803.2:c.79T>C NP_001341732.1:p.Tyr27His