Canonical Allele Identifier: CA367396725
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145139C>A , CM000669.2:g.44145139C>A GRCh38
NC_000007.13:g.44184738C>A , CM000669.1:g.44184738C>A GRCh37
NC_000007.12:g.44151263C>A NCBI36
NG_008847.1:g.49285G>T
NG_008847.2:g.58032G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1393G>T ENSP00000379142.4:n.*1393G>T
ENST00000616242.5:c.*515G>T ENSP00000482149.2:n.*515G>T
ENST00000683378.1:n.621G>T
ENST00000336642.9:c.429G>T ENSP00000338009.5:p.Gln143His
ENST00000345378.7:c.1398G>T ENSP00000223366.2:p.Gln466His
ENST00000403799.8:c.1395G>T MANE Select ENSP00000384247.3:p.Gln465His
ENST00000671824.1:c.1458G>T ENSP00000500264.1:p.Gln486His
ENST00000672743.1:n.381+26G>T
ENST00000673284.1:c.1369+26G>T ENSP00000499852.1:n.1369+26G>T
ENST00000336642.8:c.447G>T ENSP00000338009.4:p.Gln149His
ENST00000345378.6:c.1398G>T ENSP00000223366.2:p.Gln466His
ENST00000395796.7:c.1392G>T ENSP00000379142.3:p.Gln464His
ENST00000403799.7:c.1395G>T ENSP00000384247.3:p.Gln465His
ENST00000437084.1:c.1344G>T ENSP00000402840.1:p.Gln448His
ENST00000459642.1:n.775G>T
ENST00000616242.4:c.1392G>T ENSP00000482149.1:p.Gln464His
NM_000162.3:c.1395G>T NP_000153.1:p.Gln465His
NM_033507.1:c.1398G>T NP_277042.1:p.Gln466His
NM_033508.1:c.1392G>T NP_277043.1:p.Gln464His
NM_000162.4:c.1395G>T NP_000153.1:p.Gln465His
NM_001354800.1:c.1369+26G>T NP_001341729.1:n.1369+26G>T
NM_001354801.1:c.384G>T NP_001341730.1:p.Gln128His
NM_001354802.1:c.229+26G>T NP_001341731.1:n.229+26G>T
NM_001354803.1:c.429G>T NP_001341732.1:p.Gln143His
NM_033507.2:c.1398G>T NP_277042.1:p.Gln466His
NM_033508.2:c.1392G>T NP_277043.1:p.Gln464His
XM_024446707.1:c.255G>T XP_024302475.1:p.Gln85His
NM_000162.5:c.1395G>T MANE Select NP_000153.1:p.Gln465His
NM_033507.3:c.1398G>T NP_277042.1:p.Gln466His
NM_033508.3:c.1392G>T NP_277043.1:p.Gln464His
NM_001354803.2:c.429G>T NP_001341732.1:p.Gln143His