Canonical Allele Identifier: CA1703612660
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145181C= , CM000669.2:g.44145181C= GRCh38
NC_000007.13:g.44184780C= , CM000669.1:g.44184780C= GRCh37
NC_000007.12:g.44151305C= NCBI36
NG_008847.1:g.49243G=
NG_008847.2:g.57990G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1351G= ENSP00000379142.4:n.*1351G=
ENST00000616242.5:c.*473G= ENSP00000482149.2:n.*473G=
ENST00000683378.1:n.579G=
ENST00000336642.9:c.387G= ENSP00000338009.5:p.Leu129=
ENST00000345378.7:c.1356G= ENSP00000223366.2:p.Leu452=
ENST00000403799.8:c.1353G= MANE Select ENSP00000384247.3:p.Leu451=
ENST00000671824.1:c.1416G= ENSP00000500264.1:p.Leu472=
ENST00000672743.1:n.365G=
ENST00000673284.1:c.1353G= ENSP00000499852.1:p.Leu451=
ENST00000336642.8:c.405G= ENSP00000338009.4:p.Leu135=
ENST00000345378.6:c.1356G= ENSP00000223366.2:p.Leu452=
ENST00000395796.7:c.1350G= ENSP00000379142.3:p.Leu450=
ENST00000403799.7:c.1353G= ENSP00000384247.3:p.Leu451=
ENST00000437084.1:c.1302G= ENSP00000402840.1:p.Leu434=
ENST00000459642.1:n.733G=
ENST00000616242.4:c.1350G= ENSP00000482149.1:p.Leu450=
NM_000162.3:c.1353G= NP_000153.1:p.Leu451=
NM_033507.1:c.1356G= NP_277042.1:p.Leu452=
NM_033508.1:c.1350G= NP_277043.1:p.Leu450=
NM_000162.4:c.1353G= NP_000153.1:p.Leu451=
NM_001354800.1:c.1353G= NP_001341729.1:p.Leu451=
NM_001354801.1:c.342G= NP_001341730.1:p.Leu114=
NM_001354802.1:c.213G= NP_001341731.1:p.Leu71=
NM_001354803.1:c.387G= NP_001341732.1:p.Leu129=
NM_033507.2:c.1356G= NP_277042.1:p.Leu452=
NM_033508.2:c.1350G= NP_277043.1:p.Leu450=
XM_024446707.1:c.213G= XP_024302475.1:p.Leu71=
NM_000162.5:c.1353G= MANE Select NP_000153.1:p.Leu451=
NM_033507.3:c.1356G= NP_277042.1:p.Leu452=
NM_033508.3:c.1350G= NP_277043.1:p.Leu450=
NM_001354803.2:c.387G= NP_001341732.1:p.Leu129=