Canonical Allele Identifier: CA367398695
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 3024417
ClinVar RCV Id: RCV003883453
dbSNP Id: rs2096271511

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145591C>T , CM000669.2:g.44145591C>T GRCh38
NC_000007.13:g.44185190C>T , CM000669.1:g.44185190C>T GRCh37
NC_000007.12:g.44151715C>T NCBI36
NG_008847.1:g.48833G>A
NG_008847.2:g.57580G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1157G>A ENSP00000379142.4:n.*1157G>A
ENST00000616242.5:c.*279G>A ENSP00000482149.2:n.*279G>A
ENST00000683378.1:n.385G>A
ENST00000336642.9:c.193G>A ENSP00000338009.5:p.Ala65Thr
ENST00000345378.7:c.1162G>A ENSP00000223366.2:p.Ala388Thr
ENST00000403799.8:c.1159G>A MANE Select ENSP00000384247.3:p.Ala387Thr
ENST00000671824.1:c.1222G>A ENSP00000500264.1:p.Ala408Thr
ENST00000672743.1:n.171G>A
ENST00000673284.1:c.1159G>A ENSP00000499852.1:p.Ala387Thr
ENST00000336642.8:c.211G>A ENSP00000338009.4:p.Ala71Thr
ENST00000345378.6:c.1162G>A ENSP00000223366.2:p.Ala388Thr
ENST00000395796.7:c.1156G>A ENSP00000379142.3:p.Ala386Thr
ENST00000403799.7:c.1159G>A ENSP00000384247.3:p.Ala387Thr
ENST00000437084.1:c.1108G>A ENSP00000402840.1:p.Ala370Thr
ENST00000459642.1:n.539G>A
ENST00000616242.4:c.1156G>A ENSP00000482149.1:p.Ala386Thr
NM_000162.3:c.1159G>A NP_000153.1:p.Ala387Thr
NM_033507.1:c.1162G>A NP_277042.1:p.Ala388Thr
NM_033508.1:c.1156G>A NP_277043.1:p.Ala386Thr
NM_000162.4:c.1159G>A NP_000153.1:p.Ala387Thr
NM_001354800.1:c.1159G>A NP_001341729.1:p.Ala387Thr
NM_001354801.1:c.148G>A NP_001341730.1:p.Ala50Thr
NM_001354802.1:c.19G>A NP_001341731.1:p.Ala7Thr
NM_001354803.1:c.193G>A NP_001341732.1:p.Ala65Thr
NM_033507.2:c.1162G>A NP_277042.1:p.Ala388Thr
NM_033508.2:c.1156G>A NP_277043.1:p.Ala386Thr
XM_024446707.1:c.19G>A XP_024302475.1:p.Ala7Thr
NM_000162.5:c.1159G>A MANE Select NP_000153.1:p.Ala387Thr
NM_033507.3:c.1162G>A NP_277042.1:p.Ala388Thr
NM_033508.3:c.1156G>A NP_277043.1:p.Ala386Thr
NM_001354803.2:c.193G>A NP_001341732.1:p.Ala65Thr