Canonical Allele Identifier: CA2682580076
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145093-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145093C>A , CM000669.2:g.44145093C>A GRCh38
NC_000007.13:g.44184692C>A , CM000669.1:g.44184692C>A GRCh37
NC_000007.12:g.44151217C>A NCBI36
NG_008847.1:g.49331G>T
NG_008847.2:g.58078G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*1439G>T ENSP00000379142.4:n.*1439G>T
ENST00000616242.5:c.*561G>T ENSP00000482149.2:n.*561G>T
ENST00000683378.1:n.667G>T
ENST00000336642.9:c.*43G>T ENSP00000338009.5:n.*43G>T
ENST00000345378.7:c.*43G>T ENSP00000223366.2:n.*43G>T
ENST00000403799.8:c.*43G>T MANE Select ENSP00000384247.3:n.*43G>T
ENST00000671824.1:c.*43G>T ENSP00000500264.1:n.*43G>T
ENST00000672743.1:n.381+72G>T
ENST00000673284.1:c.1369+72G>T ENSP00000499852.1:n.1369+72G>T
ENST00000336642.8:c.493G>T ENSP00000338009.4:n.493G>T
ENST00000345378.6:c.*43G>T ENSP00000223366.2:n.*43G>T
ENST00000395796.7:c.*43G>T ENSP00000379142.3:n.*43G>T
ENST00000403799.7:c.*43G>T ENSP00000384247.3:n.*43G>T
ENST00000459642.1:n.821G>T
ENST00000616242.4:c.1438G>T ENSP00000482149.1:n.1438G>T
NM_000162.3:c.*43G>T NP_000153.1:n.*43G>T
NM_033507.1:c.*43G>T NP_277042.1:n.*43G>T
NM_033508.1:c.*43G>T NP_277043.1:n.*43G>T
NM_000162.4:c.*43G>T NP_000153.1:n.*43G>T
NM_001354800.1:c.1369+72G>T NP_001341729.1:n.1369+72G>T
NM_001354801.1:c.*43G>T NP_001341730.1:n.*43G>T
NM_001354802.1:c.229+72G>T NP_001341731.1:n.229+72G>T
NM_001354803.1:c.*43G>T NP_001341732.1:n.*43G>T
NM_033507.2:c.*43G>T NP_277042.1:n.*43G>T
NM_033508.2:c.*43G>T NP_277043.1:n.*43G>T
XM_024446707.1:c.*43G>T XP_024302475.1:n.*43G>T
NM_000162.5:c.*43G>T MANE Select NP_000153.1:n.*43G>T
NM_033507.3:c.*43G>T NP_277042.1:n.*43G>T
NM_033508.3:c.*43G>T NP_277043.1:n.*43G>T
NM_001354803.2:c.*43G>T NP_001341732.1:n.*43G>T