Canonical Allele Identifier: CA367403439
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153376G>C , CM000669.2:g.44153376G>C GRCh38
NC_000007.13:g.44192975G>C , CM000669.1:g.44192975G>C GRCh37
NC_000007.12:g.44159500G>C NCBI36
NG_008847.1:g.41048C>G
NG_008847.2:g.49795C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*131C>G ENSP00000379142.4:n.*131C>G
ENST00000616242.5:c.133C>G ENSP00000482149.2:p.Leu45Val
ENST00000682635.1:n.619C>G
ENST00000345378.7:c.136C>G ENSP00000223366.2:p.Leu46Val
ENST00000403799.8:c.133C>G MANE Select ENSP00000384247.3:p.Leu45Val
ENST00000671824.1:c.133C>G ENSP00000500264.1:p.Leu45Val
ENST00000673284.1:c.133C>G ENSP00000499852.1:p.Leu45Val
ENST00000345378.6:c.136C>G ENSP00000223366.2:p.Leu46Val
ENST00000395796.7:c.130C>G ENSP00000379142.3:p.Leu44Val
ENST00000403799.7:c.133C>G ENSP00000384247.3:p.Leu45Val
ENST00000437084.1:c.133C>G ENSP00000402840.1:p.Leu45Val
ENST00000616242.4:c.130C>G ENSP00000482149.1:p.Leu44Val
NM_000162.3:c.133C>G NP_000153.1:p.Leu45Val
NM_033507.1:c.136C>G NP_277042.1:p.Leu46Val
NM_033508.1:c.130C>G NP_277043.1:p.Leu44Val
NM_000162.4:c.133C>G NP_000153.1:p.Leu45Val
NM_001354800.1:c.133C>G NP_001341729.1:p.Leu45Val
NM_033507.2:c.136C>G NP_277042.1:p.Leu46Val
NM_033508.2:c.130C>G NP_277043.1:p.Leu44Val
NM_000162.5:c.133C>G MANE Select NP_000153.1:p.Leu45Val
NM_033507.3:c.136C>G NP_277042.1:p.Leu46Val
NM_033508.3:c.130C>G NP_277043.1:p.Leu44Val