Canonical Allele Identifier: CA367398869
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2578348
ClinVar RCV Id: RCV003326074
gnomAD v4: 7-44145629-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145629A>T , CM000669.2:g.44145629A>T GRCh38
NC_000007.13:g.44185228A>T , CM000669.1:g.44185228A>T GRCh37
NC_000007.12:g.44151753A>T NCBI36
NG_008847.1:g.48795T>A
NG_008847.2:g.57542T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1119T>A ENSP00000379142.4:n.*1119T>A
ENST00000616242.5:c.*241T>A ENSP00000482149.2:n.*241T>A
ENST00000683378.1:n.347T>A
ENST00000336642.9:c.155T>A ENSP00000338009.5:p.Val52Glu
ENST00000345378.7:c.1124T>A ENSP00000223366.2:p.Val375Glu
ENST00000403799.8:c.1121T>A MANE Select ENSP00000384247.3:p.Val374Glu
ENST00000671824.1:c.1184T>A ENSP00000500264.1:p.Val395Glu
ENST00000672743.1:n.133T>A
ENST00000673284.1:c.1121T>A ENSP00000499852.1:p.Val374Glu
ENST00000336642.8:c.173T>A ENSP00000338009.4:p.Val58Glu
ENST00000345378.6:c.1124T>A ENSP00000223366.2:p.Val375Glu
ENST00000395796.7:c.1118T>A ENSP00000379142.3:p.Val373Glu
ENST00000403799.7:c.1121T>A ENSP00000384247.3:p.Val374Glu
ENST00000437084.1:c.1070T>A ENSP00000402840.1:p.Val357Glu
ENST00000459642.1:n.501T>A
ENST00000616242.4:c.1118T>A ENSP00000482149.1:p.Val373Glu
NM_000162.3:c.1121T>A NP_000153.1:p.Val374Glu
NM_033507.1:c.1124T>A NP_277042.1:p.Val375Glu
NM_033508.1:c.1118T>A NP_277043.1:p.Val373Glu
NM_000162.4:c.1121T>A NP_000153.1:p.Val374Glu
NM_001354800.1:c.1121T>A NP_001341729.1:p.Val374Glu
NM_001354801.1:c.110T>A NP_001341730.1:p.Val37Glu
NM_001354802.1:c.-20T>A NP_001341731.1:n.-20T>A
NM_001354803.1:c.155T>A NP_001341732.1:p.Val52Glu
NM_033507.2:c.1124T>A NP_277042.1:p.Val375Glu
NM_033508.2:c.1118T>A NP_277043.1:p.Val373Glu
XM_024446707.1:c.-20T>A XP_024302475.1:n.-20T>A
NM_000162.5:c.1121T>A MANE Select NP_000153.1:p.Val374Glu
NM_033507.3:c.1124T>A NP_277042.1:p.Val375Glu
NM_033508.3:c.1118T>A NP_277043.1:p.Val373Glu
NM_001354803.2:c.155T>A NP_001341732.1:p.Val52Glu