Canonical Allele Identifier: CA1703612459
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2096269750
gnomAD v4: 7-44144789-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44144789G>A , CM000669.2:g.44144789G>A GRCh38
NC_000007.13:g.44184388G>A , CM000669.1:g.44184388G>A GRCh37
NC_000007.12:g.44150913G>A NCBI36
NG_008847.1:g.49635C>T
NG_008847.2:g.58382C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1743C>T ENSP00000379142.4:n.*1743C>T
ENST00000616242.5:c.*865C>T ENSP00000482149.2:n.*865C>T
ENST00000683378.1:n.971C>T
ENST00000336642.9:c.*347C>T ENSP00000338009.5:n.*347C>T
ENST00000345378.7:c.*347C>T ENSP00000223366.2:n.*347C>T
ENST00000403799.8:c.*347C>T MANE Select ENSP00000384247.3:n.*347C>T
ENST00000671824.1:c.*347C>T ENSP00000500264.1:n.*347C>T
ENST00000672743.1:n.381+376C>T
ENST00000673284.1:c.1369+376C>T ENSP00000499852.1:n.1369+376C>T
ENST00000336642.8:c.797C>T ENSP00000338009.4:n.797C>T
ENST00000345378.6:c.*347C>T ENSP00000223366.2:n.*347C>T
ENST00000395796.7:c.*347C>T ENSP00000379142.3:n.*347C>T
ENST00000403799.7:c.*347C>T ENSP00000384247.3:n.*347C>T
ENST00000459642.1:n.1125C>T
ENST00000616242.4:c.1742C>T ENSP00000482149.1:n.1742C>T
NM_000162.3:c.*347C>T NP_000153.1:n.*347C>T
NM_033507.1:c.*347C>T NP_277042.1:n.*347C>T
NM_033508.1:c.*347C>T NP_277043.1:n.*347C>T
NM_000162.4:c.*347C>T NP_000153.1:n.*347C>T
NM_001354800.1:c.1369+376C>T NP_001341729.1:n.1369+376C>T
NM_001354801.1:c.*347C>T NP_001341730.1:n.*347C>T
NM_001354802.1:c.229+376C>T NP_001341731.1:n.229+376C>T
NM_001354803.1:c.*347C>T NP_001341732.1:n.*347C>T
NM_033507.2:c.*347C>T NP_277042.1:n.*347C>T
NM_033508.2:c.*347C>T NP_277043.1:n.*347C>T
XM_024446707.1:c.*347C>T XP_024302475.1:n.*347C>T
NM_000162.5:c.*347C>T MANE Select NP_000153.1:n.*347C>T
NM_033507.3:c.*347C>T NP_277042.1:n.*347C>T
NM_033508.3:c.*347C>T NP_277043.1:n.*347C>T
NM_001354803.2:c.*347C>T NP_001341732.1:n.*347C>T
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