Canonical Allele Identifier: CA367397214
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145257C>A , CM000669.2:g.44145257C>A GRCh38
NC_000007.13:g.44184856C>A , CM000669.1:g.44184856C>A GRCh37
NC_000007.12:g.44151381C>A NCBI36
NG_008847.1:g.49167G>T
NG_008847.2:g.57914G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1275G>T ENSP00000379142.4:n.*1275G>T
ENST00000616242.5:c.*397G>T ENSP00000482149.2:n.*397G>T
ENST00000683378.1:n.503G>T
ENST00000336642.9:c.311G>T ENSP00000338009.5:p.Ser104Ile
ENST00000345378.7:c.1280G>T ENSP00000223366.2:p.Ser427Ile
ENST00000403799.8:c.1277G>T MANE Select ENSP00000384247.3:p.Ser426Ile
ENST00000671824.1:c.1340G>T ENSP00000500264.1:p.Ser447Ile
ENST00000672743.1:n.289G>T
ENST00000673284.1:c.1277G>T ENSP00000499852.1:p.Ser426Ile
ENST00000336642.8:c.329G>T ENSP00000338009.4:p.Ser110Ile
ENST00000345378.6:c.1280G>T ENSP00000223366.2:p.Ser427Ile
ENST00000395796.7:c.1274G>T ENSP00000379142.3:p.Ser425Ile
ENST00000403799.7:c.1277G>T ENSP00000384247.3:p.Ser426Ile
ENST00000437084.1:c.1226G>T ENSP00000402840.1:p.Ser409Ile
ENST00000459642.1:n.657G>T
ENST00000616242.4:c.1274G>T ENSP00000482149.1:p.Ser425Ile
NM_000162.3:c.1277G>T NP_000153.1:p.Ser426Ile
NM_033507.1:c.1280G>T NP_277042.1:p.Ser427Ile
NM_033508.1:c.1274G>T NP_277043.1:p.Ser425Ile
NM_000162.4:c.1277G>T NP_000153.1:p.Ser426Ile
NM_001354800.1:c.1277G>T NP_001341729.1:p.Ser426Ile
NM_001354801.1:c.266G>T NP_001341730.1:p.Ser89Ile
NM_001354802.1:c.137G>T NP_001341731.1:p.Ser46Ile
NM_001354803.1:c.311G>T NP_001341732.1:p.Ser104Ile
NM_033507.2:c.1280G>T NP_277042.1:p.Ser427Ile
NM_033508.2:c.1274G>T NP_277043.1:p.Ser425Ile
XM_024446707.1:c.137G>T XP_024302475.1:p.Ser46Ile
NM_000162.5:c.1277G>T MANE Select NP_000153.1:p.Ser426Ile
NM_033507.3:c.1280G>T NP_277042.1:p.Ser427Ile
NM_033508.3:c.1274G>T NP_277043.1:p.Ser425Ile
NM_001354803.2:c.311G>T NP_001341732.1:p.Ser104Ile