Canonical Allele Identifier: CA367399249
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145699T>A , CM000669.2:g.44145699T>A GRCh38
NC_000007.13:g.44185298T>A , CM000669.1:g.44185298T>A GRCh37
NC_000007.12:g.44151823T>A NCBI36
NG_008847.1:g.48725A>T
NG_008847.2:g.57472A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1049A>T ENSP00000379142.4:n.*1049A>T
ENST00000616242.5:c.*171A>T ENSP00000482149.2:n.*171A>T
ENST00000683378.1:n.277A>T
ENST00000336642.9:c.85A>T ENSP00000338009.5:p.Ile29Phe
ENST00000345378.7:c.1054A>T ENSP00000223366.2:p.Ile352Phe
ENST00000403799.8:c.1051A>T MANE Select ENSP00000384247.3:p.Ile351Phe
ENST00000671824.1:c.1114A>T ENSP00000500264.1:p.Ile372Phe
ENST00000672743.1:n.63A>T
ENST00000673284.1:c.1051A>T ENSP00000499852.1:p.Ile351Phe
ENST00000336642.8:c.103A>T ENSP00000338009.4:p.Ile35Phe
ENST00000345378.6:c.1054A>T ENSP00000223366.2:p.Ile352Phe
ENST00000395796.7:c.1048A>T ENSP00000379142.3:p.Ile350Phe
ENST00000403799.7:c.1051A>T ENSP00000384247.3:p.Ile351Phe
ENST00000437084.1:c.1000A>T ENSP00000402840.1:p.Ile334Phe
ENST00000459642.1:n.431A>T
ENST00000473353.1:n.349A>T
ENST00000616242.4:c.1048A>T ENSP00000482149.1:p.Ile350Phe
NM_000162.3:c.1051A>T NP_000153.1:p.Ile351Phe
NM_033507.1:c.1054A>T NP_277042.1:p.Ile352Phe
NM_033508.1:c.1048A>T NP_277043.1:p.Ile350Phe
NM_000162.4:c.1051A>T NP_000153.1:p.Ile351Phe
NM_001354800.1:c.1051A>T NP_001341729.1:p.Ile351Phe
NM_001354801.1:c.40A>T NP_001341730.1:p.Ile14Phe
NM_001354802.1:c.-90A>T NP_001341731.1:n.-90A>T
NM_001354803.1:c.85A>T NP_001341732.1:p.Ile29Phe
NM_033507.2:c.1054A>T NP_277042.1:p.Ile352Phe
NM_033508.2:c.1048A>T NP_277043.1:p.Ile350Phe
XM_024446707.1:c.-90A>T XP_024302475.1:n.-90A>T
NM_000162.5:c.1051A>T MANE Select NP_000153.1:p.Ile351Phe
NM_033507.3:c.1054A>T NP_277042.1:p.Ile352Phe
NM_033508.3:c.1048A>T NP_277043.1:p.Ile350Phe
NM_001354803.2:c.85A>T NP_001341732.1:p.Ile29Phe