Canonical Allele Identifier: CA367401678
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2136524
ClinVar RCV Id: RCV003037220
dbSNP Id: rs2096278790

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150022C>T , CM000669.2:g.44150022C>T GRCh38
NC_000007.13:g.44189621C>T , CM000669.1:g.44189621C>T GRCh37
NC_000007.12:g.44156146C>T NCBI36
NG_008847.1:g.44402G>A
NG_008847.2:g.53149G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*524G>A ENSP00000379142.4:n.*524G>A
ENST00000616242.5:c.526G>A ENSP00000482149.2:p.Ala176Thr
ENST00000682635.1:n.1012G>A
ENST00000345378.7:c.529G>A ENSP00000223366.2:p.Ala177Thr
ENST00000403799.8:c.526G>A MANE Select ENSP00000384247.3:p.Ala176Thr
ENST00000671824.1:c.526G>A ENSP00000500264.1:p.Ala176Thr
ENST00000673284.1:c.526G>A ENSP00000499852.1:p.Ala176Thr
ENST00000345378.6:c.529G>A ENSP00000223366.2:p.Ala177Thr
ENST00000395796.7:c.523G>A ENSP00000379142.3:p.Ala175Thr
ENST00000403799.7:c.526G>A ENSP00000384247.3:p.Ala176Thr
ENST00000437084.1:c.475G>A ENSP00000402840.1:p.Ala159Thr
ENST00000616242.4:c.523G>A ENSP00000482149.1:p.Ala175Thr
NM_000162.3:c.526G>A NP_000153.1:p.Ala176Thr
NM_033507.1:c.529G>A NP_277042.1:p.Ala177Thr
NM_033508.1:c.523G>A NP_277043.1:p.Ala175Thr
NM_000162.4:c.526G>A NP_000153.1:p.Ala176Thr
NM_001354800.1:c.526G>A NP_001341729.1:p.Ala176Thr
NM_033507.2:c.529G>A NP_277042.1:p.Ala177Thr
NM_033508.2:c.523G>A NP_277043.1:p.Ala175Thr
NM_000162.5:c.526G>A MANE Select NP_000153.1:p.Ala176Thr
NM_033507.3:c.529G>A NP_277042.1:p.Ala177Thr
NM_033508.3:c.523G>A NP_277043.1:p.Ala175Thr