Canonical Allele Identifier: CA454863128
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs777780118
gnomAD v2: 7-44185323-C-T
gnomAD v4: 7-44145724-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145724C>T , CM000669.2:g.44145724C>T GRCh38
NC_000007.13:g.44185323C>T , CM000669.1:g.44185323C>T GRCh37
NC_000007.12:g.44151848C>T NCBI36
NG_008847.1:g.48700G>A
NG_008847.2:g.57447G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1024G>A ENSP00000379142.4:n.*1024G>A
ENST00000616242.5:c.*146G>A ENSP00000482149.2:n.*146G>A
ENST00000683378.1:n.252G>A
ENST00000336642.9:c.60G>A ENSP00000338009.5:p.Thr20=
ENST00000345378.7:c.1029G>A ENSP00000223366.2:p.Thr343=
ENST00000403799.8:c.1026G>A MANE Select ENSP00000384247.3:p.Thr342=
ENST00000671824.1:c.1089G>A ENSP00000500264.1:p.Thr363=
ENST00000672743.1:n.38G>A
ENST00000673284.1:c.1026G>A ENSP00000499852.1:p.Thr342=
ENST00000336642.8:c.78G>A ENSP00000338009.4:p.Thr26=
ENST00000345378.6:c.1029G>A ENSP00000223366.2:p.Thr343=
ENST00000395796.7:c.1023G>A ENSP00000379142.3:p.Thr341=
ENST00000403799.7:c.1026G>A ENSP00000384247.3:p.Thr342=
ENST00000437084.1:c.975G>A ENSP00000402840.1:p.Thr325=
ENST00000459642.1:n.406G>A
ENST00000473353.1:n.324G>A
ENST00000616242.4:c.1023G>A ENSP00000482149.1:p.Thr341=
NM_000162.3:c.1026G>A NP_000153.1:p.Thr342=
NM_033507.1:c.1029G>A NP_277042.1:p.Thr343=
NM_033508.1:c.1023G>A NP_277043.1:p.Thr341=
NM_000162.4:c.1026G>A NP_000153.1:p.Thr342=
NM_001354800.1:c.1026G>A NP_001341729.1:p.Thr342=
NM_001354801.1:c.15G>A NP_001341730.1:p.Thr5=
NM_001354802.1:c.-115G>A NP_001341731.1:n.-115G>A
NM_001354803.1:c.60G>A NP_001341732.1:p.Thr20=
NM_033507.2:c.1029G>A NP_277042.1:p.Thr343=
NM_033508.2:c.1023G>A NP_277043.1:p.Thr341=
XM_024446707.1:c.-115G>A XP_024302475.1:n.-115G>A
NM_000162.5:c.1026G>A MANE Select NP_000153.1:p.Thr342=
NM_033507.3:c.1029G>A NP_277042.1:p.Thr343=
NM_033508.3:c.1023G>A NP_277043.1:p.Thr341=
NM_001354803.2:c.60G>A NP_001341732.1:p.Thr20=