Canonical Allele Identifier: CA157911798
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1049843536
gnomAD v4: 7-44145172-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145172C>A , CM000669.2:g.44145172C>A GRCh38
NC_000007.13:g.44184771C>A , CM000669.1:g.44184771C>A GRCh37
NC_000007.12:g.44151296C>A NCBI36
NG_008847.1:g.49252G>T
NG_008847.2:g.57999G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1360G>T ENSP00000379142.4:n.*1360G>T
ENST00000616242.5:c.*482G>T ENSP00000482149.2:n.*482G>T
ENST00000683378.1:n.588G>T
ENST00000336642.9:c.396G>T ENSP00000338009.5:p.Ala132=
ENST00000345378.7:c.1365G>T ENSP00000223366.2:p.Ala455=
ENST00000403799.8:c.1362G>T MANE Select ENSP00000384247.3:p.Ala454=
ENST00000671824.1:c.1425G>T ENSP00000500264.1:p.Ala475=
ENST00000672743.1:n.374G>T
ENST00000673284.1:c.1362G>T ENSP00000499852.1:p.Ala454=
ENST00000336642.8:c.414G>T ENSP00000338009.4:p.Ala138=
ENST00000345378.6:c.1365G>T ENSP00000223366.2:p.Ala455=
ENST00000395796.7:c.1359G>T ENSP00000379142.3:p.Ala453=
ENST00000403799.7:c.1362G>T ENSP00000384247.3:p.Ala454=
ENST00000437084.1:c.1311G>T ENSP00000402840.1:p.Ala437=
ENST00000459642.1:n.742G>T
ENST00000616242.4:c.1359G>T ENSP00000482149.1:p.Ala453=
NM_000162.3:c.1362G>T NP_000153.1:p.Ala454=
NM_033507.1:c.1365G>T NP_277042.1:p.Ala455=
NM_033508.1:c.1359G>T NP_277043.1:p.Ala453=
NM_000162.4:c.1362G>T NP_000153.1:p.Ala454=
NM_001354800.1:c.1362G>T NP_001341729.1:p.Ala454=
NM_001354801.1:c.351G>T NP_001341730.1:p.Ala117=
NM_001354802.1:c.222G>T NP_001341731.1:p.Ala74=
NM_001354803.1:c.396G>T NP_001341732.1:p.Ala132=
NM_033507.2:c.1365G>T NP_277042.1:p.Ala455=
NM_033508.2:c.1359G>T NP_277043.1:p.Ala453=
XM_024446707.1:c.222G>T XP_024302475.1:p.Ala74=
NM_000162.5:c.1362G>T MANE Select NP_000153.1:p.Ala454=
NM_033507.3:c.1365G>T NP_277042.1:p.Ala455=
NM_033508.3:c.1359G>T NP_277043.1:p.Ala453=
NM_001354803.2:c.396G>T NP_001341732.1:p.Ala132=