Canonical Allele Identifier: CA367399011
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145654T>A , CM000669.2:g.44145654T>A GRCh38
NC_000007.13:g.44185253T>A , CM000669.1:g.44185253T>A GRCh37
NC_000007.12:g.44151778T>A NCBI36
NG_008847.1:g.48770A>T
NG_008847.2:g.57517A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1094A>T ENSP00000379142.4:n.*1094A>T
ENST00000616242.5:c.*216A>T ENSP00000482149.2:n.*216A>T
ENST00000683378.1:n.322A>T
ENST00000336642.9:c.130A>T ENSP00000338009.5:p.Ile44Phe
ENST00000345378.7:c.1099A>T ENSP00000223366.2:p.Ile367Phe
ENST00000403799.8:c.1096A>T MANE Select ENSP00000384247.3:p.Ile366Phe
ENST00000671824.1:c.1159A>T ENSP00000500264.1:p.Ile387Phe
ENST00000672743.1:n.108A>T
ENST00000673284.1:c.1096A>T ENSP00000499852.1:p.Ile366Phe
ENST00000336642.8:c.148A>T ENSP00000338009.4:p.Ile50Phe
ENST00000345378.6:c.1099A>T ENSP00000223366.2:p.Ile367Phe
ENST00000395796.7:c.1093A>T ENSP00000379142.3:p.Ile365Phe
ENST00000403799.7:c.1096A>T ENSP00000384247.3:p.Ile366Phe
ENST00000437084.1:c.1045A>T ENSP00000402840.1:p.Ile349Phe
ENST00000459642.1:n.476A>T
ENST00000473353.1:n.394A>T
ENST00000616242.4:c.1093A>T ENSP00000482149.1:p.Ile365Phe
NM_000162.3:c.1096A>T NP_000153.1:p.Ile366Phe
NM_033507.1:c.1099A>T NP_277042.1:p.Ile367Phe
NM_033508.1:c.1093A>T NP_277043.1:p.Ile365Phe
NM_000162.4:c.1096A>T NP_000153.1:p.Ile366Phe
NM_001354800.1:c.1096A>T NP_001341729.1:p.Ile366Phe
NM_001354801.1:c.85A>T NP_001341730.1:p.Ile29Phe
NM_001354802.1:c.-45A>T NP_001341731.1:n.-45A>T
NM_001354803.1:c.130A>T NP_001341732.1:p.Ile44Phe
NM_033507.2:c.1099A>T NP_277042.1:p.Ile367Phe
NM_033508.2:c.1093A>T NP_277043.1:p.Ile365Phe
XM_024446707.1:c.-45A>T XP_024302475.1:n.-45A>T
NM_000162.5:c.1096A>T MANE Select NP_000153.1:p.Ile366Phe
NM_033507.3:c.1099A>T NP_277042.1:p.Ile367Phe
NM_033508.3:c.1093A>T NP_277043.1:p.Ile365Phe
NM_001354803.2:c.130A>T NP_001341732.1:p.Ile44Phe