Canonical Allele Identifier: CA367398725
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2136509
dbSNP Id: rs1583591747
gnomAD v4: 7-44145599-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145599G>T , CM000669.2:g.44145599G>T GRCh38
NC_000007.13:g.44185198G>T , CM000669.1:g.44185198G>T GRCh37
NC_000007.12:g.44151723G>T NCBI36
NG_008847.1:g.48825C>A
NG_008847.2:g.57572C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1149C>A ENSP00000379142.4:n.*1149C>A
ENST00000616242.5:c.*271C>A ENSP00000482149.2:n.*271C>A
ENST00000683378.1:n.377C>A
ENST00000336642.9:c.185C>A ENSP00000338009.5:p.Ala62Glu
ENST00000345378.7:c.1154C>A ENSP00000223366.2:p.Ala385Glu
ENST00000403799.8:c.1151C>A MANE Select ENSP00000384247.3:p.Ala384Glu
ENST00000671824.1:c.1214C>A ENSP00000500264.1:p.Ala405Glu
ENST00000672743.1:n.163C>A
ENST00000673284.1:c.1151C>A ENSP00000499852.1:p.Ala384Glu
ENST00000336642.8:c.203C>A ENSP00000338009.4:p.Ala68Glu
ENST00000345378.6:c.1154C>A ENSP00000223366.2:p.Ala385Glu
ENST00000395796.7:c.1148C>A ENSP00000379142.3:p.Ala383Glu
ENST00000403799.7:c.1151C>A ENSP00000384247.3:p.Ala384Glu
ENST00000437084.1:c.1100C>A ENSP00000402840.1:p.Ala367Glu
ENST00000459642.1:n.531C>A
ENST00000616242.4:c.1148C>A ENSP00000482149.1:p.Ala383Glu
NM_000162.3:c.1151C>A NP_000153.1:p.Ala384Glu
NM_033507.1:c.1154C>A NP_277042.1:p.Ala385Glu
NM_033508.1:c.1148C>A NP_277043.1:p.Ala383Glu
NM_000162.4:c.1151C>A NP_000153.1:p.Ala384Glu
NM_001354800.1:c.1151C>A NP_001341729.1:p.Ala384Glu
NM_001354801.1:c.140C>A NP_001341730.1:p.Ala47Glu
NM_001354802.1:c.11C>A NP_001341731.1:p.Ala4Glu
NM_001354803.1:c.185C>A NP_001341732.1:p.Ala62Glu
NM_033507.2:c.1154C>A NP_277042.1:p.Ala385Glu
NM_033508.2:c.1148C>A NP_277043.1:p.Ala383Glu
XM_024446707.1:c.11C>A XP_024302475.1:p.Ala4Glu
NM_000162.5:c.1151C>A MANE Select NP_000153.1:p.Ala384Glu
NM_033507.3:c.1154C>A NP_277042.1:p.Ala385Glu
NM_033508.3:c.1148C>A NP_277043.1:p.Ala383Glu
NM_001354803.2:c.185C>A NP_001341732.1:p.Ala62Glu