Canonical Allele Identifier: CA367399253
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1049A>C ENSP00000379142.4:n.*1049A>C
ENST00000616242.5:c.*171A>C ENSP00000482149.2:n.*171A>C
ENST00000683378.1:n.277A>C
ENST00000336642.9:c.85A>C ENSP00000338009.5:p.Ile29Leu
ENST00000345378.7:c.1054A>C ENSP00000223366.2:p.Ile352Leu
ENST00000403799.8:c.1051A>C MANE Select ENSP00000384247.3:p.Ile351Leu
ENST00000671824.1:c.1114A>C ENSP00000500264.1:p.Ile372Leu
ENST00000672743.1:n.63A>C
ENST00000673284.1:c.1051A>C ENSP00000499852.1:p.Ile351Leu
ENST00000336642.8:c.103A>C ENSP00000338009.4:p.Ile35Leu
ENST00000345378.6:c.1054A>C ENSP00000223366.2:p.Ile352Leu
ENST00000395796.7:c.1048A>C ENSP00000379142.3:p.Ile350Leu
ENST00000403799.7:c.1051A>C ENSP00000384247.3:p.Ile351Leu
ENST00000437084.1:c.1000A>C ENSP00000402840.1:p.Ile334Leu
ENST00000459642.1:n.431A>C
ENST00000473353.1:n.349A>C
ENST00000616242.4:c.1048A>C ENSP00000482149.1:p.Ile350Leu
NM_000162.3:c.1051A>C NP_000153.1:p.Ile351Leu
NM_033507.1:c.1054A>C NP_277042.1:p.Ile352Leu
NM_033508.1:c.1048A>C NP_277043.1:p.Ile350Leu
NM_000162.4:c.1051A>C NP_000153.1:p.Ile351Leu
NM_001354800.1:c.1051A>C NP_001341729.1:p.Ile351Leu
NM_001354801.1:c.40A>C NP_001341730.1:p.Ile14Leu
NM_001354802.1:c.-90A>C NP_001341731.1:n.-90A>C
NM_001354803.1:c.85A>C NP_001341732.1:p.Ile29Leu
NM_033507.2:c.1054A>C NP_277042.1:p.Ile352Leu
NM_033508.2:c.1048A>C NP_277043.1:p.Ile350Leu
XM_024446707.1:c.-90A>C XP_024302475.1:n.-90A>C
NM_000162.5:c.1051A>C MANE Select NP_000153.1:p.Ile351Leu
NM_033507.3:c.1054A>C NP_277042.1:p.Ile352Leu
NM_033508.3:c.1048A>C NP_277043.1:p.Ile350Leu
NM_001354803.2:c.85A>C NP_001341732.1:p.Ile29Leu