Canonical Allele Identifier: CA367399407
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145727-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145727G>T , CM000669.2:g.44145727G>T GRCh38
NC_000007.13:g.44185326G>T , CM000669.1:g.44185326G>T GRCh37
NC_000007.12:g.44151851G>T NCBI36
NG_008847.1:g.48697C>A
NG_008847.2:g.57444C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1021C>A ENSP00000379142.4:n.*1021C>A
ENST00000616242.5:c.*143C>A ENSP00000482149.2:n.*143C>A
ENST00000683378.1:n.249C>A
ENST00000336642.9:c.57C>A ENSP00000338009.5:p.Asp19Glu
ENST00000345378.7:c.1026C>A ENSP00000223366.2:p.Asp342Glu
ENST00000403799.8:c.1023C>A MANE Select ENSP00000384247.3:p.Asp341Glu
ENST00000671824.1:c.1086C>A ENSP00000500264.1:p.Asp362Glu
ENST00000672743.1:n.35C>A
ENST00000673284.1:c.1023C>A ENSP00000499852.1:p.Asp341Glu
ENST00000336642.8:c.75C>A ENSP00000338009.4:p.Asp25Glu
ENST00000345378.6:c.1026C>A ENSP00000223366.2:p.Asp342Glu
ENST00000395796.7:c.1020C>A ENSP00000379142.3:p.Asp340Glu
ENST00000403799.7:c.1023C>A ENSP00000384247.3:p.Asp341Glu
ENST00000437084.1:c.972C>A ENSP00000402840.1:p.Asp324Glu
ENST00000459642.1:n.403C>A
ENST00000473353.1:n.321C>A
ENST00000616242.4:c.1020C>A ENSP00000482149.1:p.Asp340Glu
NM_000162.3:c.1023C>A NP_000153.1:p.Asp341Glu
NM_033507.1:c.1026C>A NP_277042.1:p.Asp342Glu
NM_033508.1:c.1020C>A NP_277043.1:p.Asp340Glu
NM_000162.4:c.1023C>A NP_000153.1:p.Asp341Glu
NM_001354800.1:c.1023C>A NP_001341729.1:p.Asp341Glu
NM_001354801.1:c.12C>A NP_001341730.1:p.Asp4Glu
NM_001354802.1:c.-118C>A NP_001341731.1:n.-118C>A
NM_001354803.1:c.57C>A NP_001341732.1:p.Asp19Glu
NM_033507.2:c.1026C>A NP_277042.1:p.Asp342Glu
NM_033508.2:c.1020C>A NP_277043.1:p.Asp340Glu
XM_024446707.1:c.-118C>A XP_024302475.1:n.-118C>A
NM_000162.5:c.1023C>A MANE Select NP_000153.1:p.Asp341Glu
NM_033507.3:c.1026C>A NP_277042.1:p.Asp342Glu
NM_033508.3:c.1020C>A NP_277043.1:p.Asp340Glu
NM_001354803.2:c.57C>A NP_001341732.1:p.Asp19Glu