Canonical Allele Identifier: CA367399352
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145717-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145717G>A , CM000669.2:g.44145717G>A GRCh38
NC_000007.13:g.44185316G>A , CM000669.1:g.44185316G>A GRCh37
NC_000007.12:g.44151841G>A NCBI36
NG_008847.1:g.48707C>T
NG_008847.2:g.57454C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1031C>T ENSP00000379142.4:n.*1031C>T
ENST00000616242.5:c.*153C>T ENSP00000482149.2:n.*153C>T
ENST00000683378.1:n.259C>T
ENST00000336642.9:c.67C>T ENSP00000338009.5:p.Arg23Cys
ENST00000345378.7:c.1036C>T ENSP00000223366.2:p.Arg346Cys
ENST00000403799.8:c.1033C>T MANE Select ENSP00000384247.3:p.Arg345Cys
ENST00000671824.1:c.1096C>T ENSP00000500264.1:p.Arg366Cys
ENST00000672743.1:n.45C>T
ENST00000673284.1:c.1033C>T ENSP00000499852.1:p.Arg345Cys
ENST00000336642.8:c.85C>T ENSP00000338009.4:p.Arg29Cys
ENST00000345378.6:c.1036C>T ENSP00000223366.2:p.Arg346Cys
ENST00000395796.7:c.1030C>T ENSP00000379142.3:p.Arg344Cys
ENST00000403799.7:c.1033C>T ENSP00000384247.3:p.Arg345Cys
ENST00000437084.1:c.982C>T ENSP00000402840.1:p.Arg328Cys
ENST00000459642.1:n.413C>T
ENST00000473353.1:n.331C>T
ENST00000616242.4:c.1030C>T ENSP00000482149.1:p.Arg344Cys
NM_000162.3:c.1033C>T NP_000153.1:p.Arg345Cys
NM_033507.1:c.1036C>T NP_277042.1:p.Arg346Cys
NM_033508.1:c.1030C>T NP_277043.1:p.Arg344Cys
NM_000162.4:c.1033C>T NP_000153.1:p.Arg345Cys
NM_001354800.1:c.1033C>T NP_001341729.1:p.Arg345Cys
NM_001354801.1:c.22C>T NP_001341730.1:p.Arg8Cys
NM_001354802.1:c.-108C>T NP_001341731.1:n.-108C>T
NM_001354803.1:c.67C>T NP_001341732.1:p.Arg23Cys
NM_033507.2:c.1036C>T NP_277042.1:p.Arg346Cys
NM_033508.2:c.1030C>T NP_277043.1:p.Arg344Cys
XM_024446707.1:c.-108C>T XP_024302475.1:n.-108C>T
NM_000162.5:c.1033C>T MANE Select NP_000153.1:p.Arg345Cys
NM_033507.3:c.1036C>T NP_277042.1:p.Arg346Cys
NM_033508.3:c.1030C>T NP_277043.1:p.Arg344Cys
NM_001354803.2:c.67C>T NP_001341732.1:p.Arg23Cys