Canonical Allele Identifier: CA367401343
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1679544
ClinVar RCV Id: RCV002227423

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149825T>A , CM000669.2:g.44149825T>A GRCh38
NC_000007.13:g.44189424T>A , CM000669.1:g.44189424T>A GRCh37
NC_000007.12:g.44155949T>A NCBI36
NG_008847.1:g.44599A>T
NG_008847.2:g.53346A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*612A>T ENSP00000379142.4:n.*612A>T
ENST00000616242.5:c.614A>T ENSP00000482149.2:p.Asp205Val
ENST00000682635.1:n.1100A>T
ENST00000345378.7:c.617A>T ENSP00000223366.2:p.Asp206Val
ENST00000403799.8:c.614A>T MANE Select ENSP00000384247.3:p.Asp205Val
ENST00000671824.1:c.614A>T ENSP00000500264.1:p.Asp205Val
ENST00000673284.1:c.614A>T ENSP00000499852.1:p.Asp205Val
ENST00000345378.6:c.617A>T ENSP00000223366.2:p.Asp206Val
ENST00000395796.7:c.611A>T ENSP00000379142.3:p.Asp204Val
ENST00000403799.7:c.614A>T ENSP00000384247.3:p.Asp205Val
ENST00000437084.1:c.563A>T ENSP00000402840.1:p.Asp188Val
ENST00000616242.4:n.611A>T ENSP00000482149.1:p.Asp204Val
NM_000162.3:c.614A>T NP_000153.1:p.Asp205Val
NM_033507.1:c.617A>T NP_277042.1:p.Asp206Val
NM_033508.1:c.611A>T NP_277043.1:p.Asp204Val
NM_000162.4:c.614A>T NP_000153.1:p.Asp205Val
NM_001354800.1:c.614A>T NP_001341729.1:p.Asp205Val
NM_033507.2:c.617A>T NP_277042.1:p.Asp206Val
NM_033508.2:c.611A>T NP_277043.1:p.Asp204Val
NM_000162.5:c.614A>T MANE Select NP_000153.1:p.Asp205Val
NM_033507.3:c.617A>T NP_277042.1:p.Asp206Val
NM_033508.3:c.611A>T NP_277043.1:p.Asp204Val