Canonical Allele Identifier: CA367398702
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145593A>T , CM000669.2:g.44145593A>T GRCh38
NC_000007.13:g.44185192A>T , CM000669.1:g.44185192A>T GRCh37
NC_000007.12:g.44151717A>T NCBI36
NG_008847.1:g.48831T>A
NG_008847.2:g.57578T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1155T>A ENSP00000379142.4:n.*1155T>A
ENST00000616242.5:c.*277T>A ENSP00000482149.2:n.*277T>A
ENST00000683378.1:n.383T>A
ENST00000336642.9:c.191T>A ENSP00000338009.5:p.Leu64Gln
ENST00000345378.7:c.1160T>A ENSP00000223366.2:p.Leu387Gln
ENST00000403799.8:c.1157T>A MANE Select ENSP00000384247.3:p.Leu386Gln
ENST00000671824.1:c.1220T>A ENSP00000500264.1:p.Leu407Gln
ENST00000672743.1:n.169T>A
ENST00000673284.1:c.1157T>A ENSP00000499852.1:p.Leu386Gln
ENST00000336642.8:c.209T>A ENSP00000338009.4:p.Leu70Gln
ENST00000345378.6:c.1160T>A ENSP00000223366.2:p.Leu387Gln
ENST00000395796.7:c.1154T>A ENSP00000379142.3:p.Leu385Gln
ENST00000403799.7:c.1157T>A ENSP00000384247.3:p.Leu386Gln
ENST00000437084.1:c.1106T>A ENSP00000402840.1:p.Leu369Gln
ENST00000459642.1:n.537T>A
ENST00000616242.4:c.1154T>A ENSP00000482149.1:p.Leu385Gln
NM_000162.3:c.1157T>A NP_000153.1:p.Leu386Gln
NM_033507.1:c.1160T>A NP_277042.1:p.Leu387Gln
NM_033508.1:c.1154T>A NP_277043.1:p.Leu385Gln
NM_000162.4:c.1157T>A NP_000153.1:p.Leu386Gln
NM_001354800.1:c.1157T>A NP_001341729.1:p.Leu386Gln
NM_001354801.1:c.146T>A NP_001341730.1:p.Leu49Gln
NM_001354802.1:c.17T>A NP_001341731.1:p.Leu6Gln
NM_001354803.1:c.191T>A NP_001341732.1:p.Leu64Gln
NM_033507.2:c.1160T>A NP_277042.1:p.Leu387Gln
NM_033508.2:c.1154T>A NP_277043.1:p.Leu385Gln
XM_024446707.1:c.17T>A XP_024302475.1:p.Leu6Gln
NM_000162.5:c.1157T>A MANE Select NP_000153.1:p.Leu386Gln
NM_033507.3:c.1160T>A NP_277042.1:p.Leu387Gln
NM_033508.3:c.1154T>A NP_277043.1:p.Leu385Gln
NM_001354803.2:c.191T>A NP_001341732.1:p.Leu64Gln