Canonical Allele Identifier: CA367399158
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145681G>C , CM000669.2:g.44145681G>C GRCh38
NC_000007.13:g.44185280G>C , CM000669.1:g.44185280G>C GRCh37
NC_000007.12:g.44151805G>C NCBI36
NG_008847.1:g.48743C>G
NG_008847.2:g.57490C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1067C>G ENSP00000379142.4:n.*1067C>G
ENST00000616242.5:c.*189C>G ENSP00000482149.2:n.*189C>G
ENST00000683378.1:n.295C>G
ENST00000336642.9:c.103C>G ENSP00000338009.5:p.Leu35Val
ENST00000345378.7:c.1072C>G ENSP00000223366.2:p.Leu358Val
ENST00000403799.8:c.1069C>G MANE Select ENSP00000384247.3:p.Leu357Val
ENST00000671824.1:c.1132C>G ENSP00000500264.1:p.Leu378Val
ENST00000672743.1:n.81C>G
ENST00000673284.1:c.1069C>G ENSP00000499852.1:p.Leu357Val
ENST00000336642.8:c.121C>G ENSP00000338009.4:p.Leu41Val
ENST00000345378.6:c.1072C>G ENSP00000223366.2:p.Leu358Val
ENST00000395796.7:c.1066C>G ENSP00000379142.3:p.Leu356Val
ENST00000403799.7:c.1069C>G ENSP00000384247.3:p.Leu357Val
ENST00000437084.1:c.1018C>G ENSP00000402840.1:p.Leu340Val
ENST00000459642.1:n.449C>G
ENST00000473353.1:n.367C>G
ENST00000616242.4:c.1066C>G ENSP00000482149.1:p.Leu356Val
NM_000162.3:c.1069C>G NP_000153.1:p.Leu357Val
NM_033507.1:c.1072C>G NP_277042.1:p.Leu358Val
NM_033508.1:c.1066C>G NP_277043.1:p.Leu356Val
NM_000162.4:c.1069C>G NP_000153.1:p.Leu357Val
NM_001354800.1:c.1069C>G NP_001341729.1:p.Leu357Val
NM_001354801.1:c.58C>G NP_001341730.1:p.Leu20Val
NM_001354802.1:c.-72C>G NP_001341731.1:n.-72C>G
NM_001354803.1:c.103C>G NP_001341732.1:p.Leu35Val
NM_033507.2:c.1072C>G NP_277042.1:p.Leu358Val
NM_033508.2:c.1066C>G NP_277043.1:p.Leu356Val
XM_024446707.1:c.-72C>G XP_024302475.1:n.-72C>G
NM_000162.5:c.1069C>G MANE Select NP_000153.1:p.Leu357Val
NM_033507.3:c.1072C>G NP_277042.1:p.Leu358Val
NM_033508.3:c.1066C>G NP_277043.1:p.Leu356Val
NM_001354803.2:c.103C>G NP_001341732.1:p.Leu35Val