Canonical Allele Identifier: CA367397060
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2571665
ClinVar RCV Id: RCV003313375

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145221A>T , CM000669.2:g.44145221A>T GRCh38
NC_000007.13:g.44184820A>T , CM000669.1:g.44184820A>T GRCh37
NC_000007.12:g.44151345A>T NCBI36
NG_008847.1:g.49203T>A
NG_008847.2:g.57950T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1311T>A ENSP00000379142.4:n.*1311T>A
ENST00000616242.5:c.*433T>A ENSP00000482149.2:n.*433T>A
ENST00000683378.1:n.539T>A
ENST00000336642.9:c.347T>A ENSP00000338009.5:p.Phe116Tyr
ENST00000345378.7:c.1316T>A ENSP00000223366.2:p.Phe439Tyr
ENST00000403799.8:c.1313T>A MANE Select ENSP00000384247.3:p.Phe438Tyr
ENST00000671824.1:c.1376T>A ENSP00000500264.1:p.Phe459Tyr
ENST00000672743.1:n.325T>A
ENST00000673284.1:c.1313T>A ENSP00000499852.1:p.Phe438Tyr
ENST00000336642.8:c.365T>A ENSP00000338009.4:p.Phe122Tyr
ENST00000345378.6:c.1316T>A ENSP00000223366.2:p.Phe439Tyr
ENST00000395796.7:c.1310T>A ENSP00000379142.3:p.Phe437Tyr
ENST00000403799.7:c.1313T>A ENSP00000384247.3:p.Phe438Tyr
ENST00000437084.1:c.1262T>A ENSP00000402840.1:p.Phe421Tyr
ENST00000459642.1:n.693T>A
ENST00000616242.4:c.1310T>A ENSP00000482149.1:p.Phe437Tyr
NM_000162.3:c.1313T>A NP_000153.1:p.Phe438Tyr
NM_033507.1:c.1316T>A NP_277042.1:p.Phe439Tyr
NM_033508.1:c.1310T>A NP_277043.1:p.Phe437Tyr
NM_000162.4:c.1313T>A NP_000153.1:p.Phe438Tyr
NM_001354800.1:c.1313T>A NP_001341729.1:p.Phe438Tyr
NM_001354801.1:c.302T>A NP_001341730.1:p.Phe101Tyr
NM_001354802.1:c.173T>A NP_001341731.1:p.Phe58Tyr
NM_001354803.1:c.347T>A NP_001341732.1:p.Phe116Tyr
NM_033507.2:c.1316T>A NP_277042.1:p.Phe439Tyr
NM_033508.2:c.1310T>A NP_277043.1:p.Phe437Tyr
XM_024446707.1:c.173T>A XP_024302475.1:p.Phe58Tyr
NM_000162.5:c.1313T>A MANE Select NP_000153.1:p.Phe438Tyr
NM_033507.3:c.1316T>A NP_277042.1:p.Phe439Tyr
NM_033508.3:c.1310T>A NP_277043.1:p.Phe437Tyr
NM_001354803.2:c.347T>A NP_001341732.1:p.Phe116Tyr