Canonical Allele Identifier: CA367398296
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2136506
ClinVar RCV Id: RCV003060097

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145518G>A , CM000669.2:g.44145518G>A GRCh38
NC_000007.13:g.44185117G>A , CM000669.1:g.44185117G>A GRCh37
NC_000007.12:g.44151642G>A NCBI36
NG_008847.1:g.48906C>T
NG_008847.2:g.57653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1230C>T ENSP00000379142.4:n.*1230C>T
ENST00000616242.5:c.*352C>T ENSP00000482149.2:n.*352C>T
ENST00000683378.1:n.458C>T
ENST00000336642.9:c.266C>T ENSP00000338009.5:p.Ser89Phe
ENST00000345378.7:c.1235C>T ENSP00000223366.2:p.Ser412Phe
ENST00000403799.8:c.1232C>T MANE Select ENSP00000384247.3:p.Ser411Phe
ENST00000671824.1:c.1295C>T ENSP00000500264.1:p.Ser432Phe
ENST00000672743.1:n.244C>T
ENST00000673284.1:c.1232C>T ENSP00000499852.1:p.Ser411Phe
ENST00000336642.8:c.284C>T ENSP00000338009.4:p.Ser95Phe
ENST00000345378.6:c.1235C>T ENSP00000223366.2:p.Ser412Phe
ENST00000395796.7:c.1229C>T ENSP00000379142.3:p.Ser410Phe
ENST00000403799.7:c.1232C>T ENSP00000384247.3:p.Ser411Phe
ENST00000437084.1:c.1181C>T ENSP00000402840.1:p.Ser394Phe
ENST00000459642.1:n.612C>T
ENST00000616242.4:c.1229C>T ENSP00000482149.1:p.Ser410Phe
NM_000162.3:c.1232C>T NP_000153.1:p.Ser411Phe
NM_033507.1:c.1235C>T NP_277042.1:p.Ser412Phe
NM_033508.1:c.1229C>T NP_277043.1:p.Ser410Phe
NM_000162.4:c.1232C>T NP_000153.1:p.Ser411Phe
NM_001354800.1:c.1232C>T NP_001341729.1:p.Ser411Phe
NM_001354801.1:c.221C>T NP_001341730.1:p.Ser74Phe
NM_001354802.1:c.92C>T NP_001341731.1:p.Ser31Phe
NM_001354803.1:c.266C>T NP_001341732.1:p.Ser89Phe
NM_033507.2:c.1235C>T NP_277042.1:p.Ser412Phe
NM_033508.2:c.1229C>T NP_277043.1:p.Ser410Phe
XM_024446707.1:c.92C>T XP_024302475.1:p.Ser31Phe
NM_000162.5:c.1232C>T MANE Select NP_000153.1:p.Ser411Phe
NM_033507.3:c.1235C>T NP_277042.1:p.Ser412Phe
NM_033508.3:c.1229C>T NP_277043.1:p.Ser410Phe
NM_001354803.2:c.266C>T NP_001341732.1:p.Ser89Phe