Canonical Allele Identifier: CA367398692
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1157G>T ENSP00000379142.4:n.*1157G>T
ENST00000616242.5:c.*279G>T ENSP00000482149.2:n.*279G>T
ENST00000683378.1:n.385G>T
ENST00000336642.9:c.193G>T ENSP00000338009.5:p.Ala65Ser
ENST00000345378.7:c.1162G>T ENSP00000223366.2:p.Ala388Ser
ENST00000403799.8:c.1159G>T MANE Select ENSP00000384247.3:p.Ala387Ser
ENST00000671824.1:c.1222G>T ENSP00000500264.1:p.Ala408Ser
ENST00000672743.1:n.171G>T
ENST00000673284.1:c.1159G>T ENSP00000499852.1:p.Ala387Ser
ENST00000336642.8:c.211G>T ENSP00000338009.4:p.Ala71Ser
ENST00000345378.6:c.1162G>T ENSP00000223366.2:p.Ala388Ser
ENST00000395796.7:c.1156G>T ENSP00000379142.3:p.Ala386Ser
ENST00000403799.7:c.1159G>T ENSP00000384247.3:p.Ala387Ser
ENST00000437084.1:c.1108G>T ENSP00000402840.1:p.Ala370Ser
ENST00000459642.1:n.539G>T
ENST00000616242.4:c.1156G>T ENSP00000482149.1:p.Ala386Ser
NM_000162.3:c.1159G>T NP_000153.1:p.Ala387Ser
NM_033507.1:c.1162G>T NP_277042.1:p.Ala388Ser
NM_033508.1:c.1156G>T NP_277043.1:p.Ala386Ser
NM_000162.4:c.1159G>T NP_000153.1:p.Ala387Ser
NM_001354800.1:c.1159G>T NP_001341729.1:p.Ala387Ser
NM_001354801.1:c.148G>T NP_001341730.1:p.Ala50Ser
NM_001354802.1:c.19G>T NP_001341731.1:p.Ala7Ser
NM_001354803.1:c.193G>T NP_001341732.1:p.Ala65Ser
NM_033507.2:c.1162G>T NP_277042.1:p.Ala388Ser
NM_033508.2:c.1156G>T NP_277043.1:p.Ala386Ser
XM_024446707.1:c.19G>T XP_024302475.1:p.Ala7Ser
NM_000162.5:c.1159G>T MANE Select NP_000153.1:p.Ala387Ser
NM_033507.3:c.1162G>T NP_277042.1:p.Ala388Ser
NM_033508.3:c.1156G>T NP_277043.1:p.Ala386Ser
NM_001354803.2:c.193G>T NP_001341732.1:p.Ala65Ser