Canonical Allele Identifier: CA367399036
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2136510
ClinVar RCV Id: RCV003037214

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145657C>T , CM000669.2:g.44145657C>T GRCh38
NC_000007.13:g.44185256C>T , CM000669.1:g.44185256C>T GRCh37
NC_000007.12:g.44151781C>T NCBI36
NG_008847.1:g.48767G>A
NG_008847.2:g.57514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1091G>A ENSP00000379142.4:n.*1091G>A
ENST00000616242.5:c.*213G>A ENSP00000482149.2:n.*213G>A
ENST00000683378.1:n.319G>A
ENST00000336642.9:c.127G>A ENSP00000338009.5:p.Asp43Asn
ENST00000345378.7:c.1096G>A ENSP00000223366.2:p.Asp366Asn
ENST00000403799.8:c.1093G>A MANE Select ENSP00000384247.3:p.Asp365Asn
ENST00000671824.1:c.1156G>A ENSP00000500264.1:p.Asp386Asn
ENST00000672743.1:n.105G>A
ENST00000673284.1:c.1093G>A ENSP00000499852.1:p.Asp365Asn
ENST00000336642.8:c.145G>A ENSP00000338009.4:p.Asp49Asn
ENST00000345378.6:c.1096G>A ENSP00000223366.2:p.Asp366Asn
ENST00000395796.7:c.1090G>A ENSP00000379142.3:p.Asp364Asn
ENST00000403799.7:c.1093G>A ENSP00000384247.3:p.Asp365Asn
ENST00000437084.1:c.1042G>A ENSP00000402840.1:p.Asp348Asn
ENST00000459642.1:n.473G>A
ENST00000473353.1:n.391G>A
ENST00000616242.4:c.1090G>A ENSP00000482149.1:p.Asp364Asn
NM_000162.3:c.1093G>A NP_000153.1:p.Asp365Asn
NM_033507.1:c.1096G>A NP_277042.1:p.Asp366Asn
NM_033508.1:c.1090G>A NP_277043.1:p.Asp364Asn
NM_000162.4:c.1093G>A NP_000153.1:p.Asp365Asn
NM_001354800.1:c.1093G>A NP_001341729.1:p.Asp365Asn
NM_001354801.1:c.82G>A NP_001341730.1:p.Asp28Asn
NM_001354802.1:c.-48G>A NP_001341731.1:n.-48G>A
NM_001354803.1:c.127G>A NP_001341732.1:p.Asp43Asn
NM_033507.2:c.1096G>A NP_277042.1:p.Asp366Asn
NM_033508.2:c.1090G>A NP_277043.1:p.Asp364Asn
XM_024446707.1:c.-48G>A XP_024302475.1:n.-48G>A
NM_000162.5:c.1093G>A MANE Select NP_000153.1:p.Asp365Asn
NM_033507.3:c.1096G>A NP_277042.1:p.Asp366Asn
NM_033508.3:c.1090G>A NP_277043.1:p.Asp364Asn
NM_001354803.2:c.127G>A NP_001341732.1:p.Asp43Asn