Canonical Allele Identifier: CA1703612661
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145183G= , CM000669.2:g.44145183G= GRCh38
NC_000007.13:g.44184782G= , CM000669.1:g.44184782G= GRCh37
NC_000007.12:g.44151307G= NCBI36
NG_008847.1:g.49241C=
NG_008847.2:g.57988C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1349C= ENSP00000379142.4:n.*1349C=
ENST00000616242.5:c.*471C= ENSP00000482149.2:n.*471C=
ENST00000683378.1:n.577C=
ENST00000336642.9:c.385C= ENSP00000338009.5:p.Leu129=
ENST00000345378.7:c.1354C= ENSP00000223366.2:p.Leu452=
ENST00000403799.8:c.1351C= MANE Select ENSP00000384247.3:p.Leu451=
ENST00000671824.1:c.1414C= ENSP00000500264.1:p.Leu472=
ENST00000672743.1:n.363C=
ENST00000673284.1:c.1351C= ENSP00000499852.1:p.Leu451=
ENST00000336642.8:c.403C= ENSP00000338009.4:p.Leu135=
ENST00000345378.6:c.1354C= ENSP00000223366.2:p.Leu452=
ENST00000395796.7:c.1348C= ENSP00000379142.3:p.Leu450=
ENST00000403799.7:c.1351C= ENSP00000384247.3:p.Leu451=
ENST00000437084.1:c.1300C= ENSP00000402840.1:p.Leu434=
ENST00000459642.1:n.731C=
ENST00000616242.4:c.1348C= ENSP00000482149.1:p.Leu450=
NM_000162.3:c.1351C= NP_000153.1:p.Leu451=
NM_033507.1:c.1354C= NP_277042.1:p.Leu452=
NM_033508.1:c.1348C= NP_277043.1:p.Leu450=
NM_000162.4:c.1351C= NP_000153.1:p.Leu451=
NM_001354800.1:c.1351C= NP_001341729.1:p.Leu451=
NM_001354801.1:c.340C= NP_001341730.1:p.Leu114=
NM_001354802.1:c.211C= NP_001341731.1:p.Leu71=
NM_001354803.1:c.385C= NP_001341732.1:p.Leu129=
NM_033507.2:c.1354C= NP_277042.1:p.Leu452=
NM_033508.2:c.1348C= NP_277043.1:p.Leu450=
XM_024446707.1:c.211C= XP_024302475.1:p.Leu71=
NM_000162.5:c.1351C= MANE Select NP_000153.1:p.Leu451=
NM_033507.3:c.1354C= NP_277042.1:p.Leu452=
NM_033508.3:c.1348C= NP_277043.1:p.Leu450=
NM_001354803.2:c.385C= NP_001341732.1:p.Leu129=