Canonical Allele Identifier: CA454863051
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1275944560
gnomAD v2: 7-44185266-G-A
gnomAD v4: 7-44145667-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145667G>A , CM000669.2:g.44145667G>A GRCh38
NC_000007.13:g.44185266G>A , CM000669.1:g.44185266G>A GRCh37
NC_000007.12:g.44151791G>A NCBI36
NG_008847.1:g.48757C>T
NG_008847.2:g.57504C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1081C>T ENSP00000379142.4:n.*1081C>T
ENST00000616242.5:c.*203C>T ENSP00000482149.2:n.*203C>T
ENST00000683378.1:n.309C>T
ENST00000336642.9:c.117C>T ENSP00000338009.5:p.Thr39=
ENST00000345378.7:c.1086C>T ENSP00000223366.2:p.Thr362=
ENST00000403799.8:c.1083C>T MANE Select ENSP00000384247.3:p.Thr361=
ENST00000671824.1:c.1146C>T ENSP00000500264.1:p.Thr382=
ENST00000672743.1:n.95C>T
ENST00000673284.1:c.1083C>T ENSP00000499852.1:p.Thr361=
ENST00000336642.8:c.135C>T ENSP00000338009.4:p.Thr45=
ENST00000345378.6:c.1086C>T ENSP00000223366.2:p.Thr362=
ENST00000395796.7:c.1080C>T ENSP00000379142.3:p.Thr360=
ENST00000403799.7:c.1083C>T ENSP00000384247.3:p.Thr361=
ENST00000437084.1:c.1032C>T ENSP00000402840.1:p.Thr344=
ENST00000459642.1:n.463C>T
ENST00000473353.1:n.381C>T
ENST00000616242.4:c.1080C>T ENSP00000482149.1:p.Thr360=
NM_000162.3:c.1083C>T NP_000153.1:p.Thr361=
NM_033507.1:c.1086C>T NP_277042.1:p.Thr362=
NM_033508.1:c.1080C>T NP_277043.1:p.Thr360=
NM_000162.4:c.1083C>T NP_000153.1:p.Thr361=
NM_001354800.1:c.1083C>T NP_001341729.1:p.Thr361=
NM_001354801.1:c.72C>T NP_001341730.1:p.Thr24=
NM_001354802.1:c.-58C>T NP_001341731.1:n.-58C>T
NM_001354803.1:c.117C>T NP_001341732.1:p.Thr39=
NM_033507.2:c.1086C>T NP_277042.1:p.Thr362=
NM_033508.2:c.1080C>T NP_277043.1:p.Thr360=
XM_024446707.1:c.-58C>T XP_024302475.1:n.-58C>T
NM_000162.5:c.1083C>T MANE Select NP_000153.1:p.Thr361=
NM_033507.3:c.1086C>T NP_277042.1:p.Thr362=
NM_033508.3:c.1080C>T NP_277043.1:p.Thr360=
NM_001354803.2:c.117C>T NP_001341732.1:p.Thr39=