Canonical Allele Identifier: CA367397306
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145277G>T , CM000669.2:g.44145277G>T GRCh38
NC_000007.13:g.44184876G>T , CM000669.1:g.44184876G>T GRCh37
NC_000007.12:g.44151401G>T NCBI36
NG_008847.1:g.49147C>A
NG_008847.2:g.57894C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1255C>A ENSP00000379142.4:n.*1255C>A
ENST00000616242.5:c.*377C>A ENSP00000482149.2:n.*377C>A
ENST00000683378.1:n.483C>A
ENST00000336642.9:c.291C>A ENSP00000338009.5:p.Phe97Leu
ENST00000345378.7:c.1260C>A ENSP00000223366.2:p.Phe420Leu
ENST00000403799.8:c.1257C>A MANE Select ENSP00000384247.3:p.Phe419Leu
ENST00000671824.1:c.1320C>A ENSP00000500264.1:p.Phe440Leu
ENST00000672743.1:n.269C>A
ENST00000673284.1:c.1257C>A ENSP00000499852.1:p.Phe419Leu
ENST00000336642.8:c.309C>A ENSP00000338009.4:p.Phe103Leu
ENST00000345378.6:c.1260C>A ENSP00000223366.2:p.Phe420Leu
ENST00000395796.7:c.1254C>A ENSP00000379142.3:p.Phe418Leu
ENST00000403799.7:c.1257C>A ENSP00000384247.3:p.Phe419Leu
ENST00000437084.1:c.1206C>A ENSP00000402840.1:p.Phe402Leu
ENST00000459642.1:n.637C>A
ENST00000616242.4:c.1254C>A ENSP00000482149.1:p.Phe418Leu
NM_000162.3:c.1257C>A NP_000153.1:p.Phe419Leu
NM_033507.1:c.1260C>A NP_277042.1:p.Phe420Leu
NM_033508.1:c.1254C>A NP_277043.1:p.Phe418Leu
NM_000162.4:c.1257C>A NP_000153.1:p.Phe419Leu
NM_001354800.1:c.1257C>A NP_001341729.1:p.Phe419Leu
NM_001354801.1:c.246C>A NP_001341730.1:p.Phe82Leu
NM_001354802.1:c.117C>A NP_001341731.1:p.Phe39Leu
NM_001354803.1:c.291C>A NP_001341732.1:p.Phe97Leu
NM_033507.2:c.1260C>A NP_277042.1:p.Phe420Leu
NM_033508.2:c.1254C>A NP_277043.1:p.Phe418Leu
XM_024446707.1:c.117C>A XP_024302475.1:p.Phe39Leu
NM_000162.5:c.1257C>A MANE Select NP_000153.1:p.Phe419Leu
NM_033507.3:c.1260C>A NP_277042.1:p.Phe420Leu
NM_033508.3:c.1254C>A NP_277043.1:p.Phe418Leu
NM_001354803.2:c.291C>A NP_001341732.1:p.Phe97Leu