Canonical Allele Identifier: CA367400138
Community Standard Title: NM_000162.5(GCK):c.883G>C (p.Gly295Arg)
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146599C>G , CM000669.2:g.44146599C>G GRCh38
NC_000007.13:g.44186198C>G , CM000669.1:g.44186198C>G GRCh37
NC_000007.12:g.44152723C>G NCBI36
NG_008847.1:g.47825G>C
NG_008847.2:g.56572G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000162.5:c.883G>C MANE Select NP_000153.1:p.Gly295Arg
ENST00000403799.8:c.883G>C MANE Select ENSP00000384247.3:p.Gly295Arg
NM_000162.3:c.883G>C NP_000153.1:p.Gly295Arg
NM_000162.4:c.883G>C NP_000153.1:p.Gly295Arg
NM_001354800.1:c.883G>C NP_001341729.1:p.Gly295Arg
NM_001354801.1:c.8+20G>C NP_001341730.1:n.8+20G>C
NM_033507.1:c.886G>C NP_277042.1:p.Gly296Arg
NM_033507.2:c.886G>C NP_277042.1:p.Gly296Arg
NM_033507.3:c.886G>C NP_277042.1:p.Gly296Arg
NM_033508.1:c.880G>C NP_277043.1:p.Gly294Arg
NM_033508.2:c.880G>C NP_277043.1:p.Gly294Arg
NM_033508.3:c.880G>C NP_277043.1:p.Gly294Arg
ENST00000345378.6:c.886G>C ENSP00000223366.2:p.Gly296Arg
ENST00000345378.7:c.886G>C ENSP00000223366.2:p.Gly296Arg
ENST00000395796.7:c.880G>C ENSP00000379142.3:p.Gly294Arg
ENST00000395796.8:c.*881G>C ENSP00000379142.4:n.*881G>C
ENST00000403799.7:c.883G>C ENSP00000384247.3:p.Gly295Arg
ENST00000437084.1:c.832G>C ENSP00000402840.1:p.Gly278Arg
ENST00000473353.1:n.181G>C
ENST00000616242.4:c.880G>C ENSP00000482149.1:p.Gly294Arg
ENST00000616242.5:c.*3G>C ENSP00000482149.2:n.*3G>C
ENST00000671824.1:c.946G>C ENSP00000500264.1:p.Gly316Arg
ENST00000673284.1:c.883G>C ENSP00000499852.1:p.Gly295Arg
ENST00000683378.1:n.109G>C