Canonical Allele Identifier: CA157911840
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1007049794
gnomAD v4: 7-44145204-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145204C>T , CM000669.2:g.44145204C>T GRCh38
NC_000007.13:g.44184803C>T , CM000669.1:g.44184803C>T GRCh37
NC_000007.12:g.44151328C>T NCBI36
NG_008847.1:g.49220G>A
NG_008847.2:g.57967G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1328G>A ENSP00000379142.4:n.*1328G>A
ENST00000616242.5:c.*450G>A ENSP00000482149.2:n.*450G>A
ENST00000683378.1:n.556G>A
ENST00000336642.9:c.364G>A ENSP00000338009.5:p.Gly122Ser
ENST00000345378.7:c.1333G>A ENSP00000223366.2:p.Gly445Ser
ENST00000403799.8:c.1330G>A MANE Select ENSP00000384247.3:p.Gly444Ser
ENST00000671824.1:c.1393G>A ENSP00000500264.1:p.Gly465Ser
ENST00000672743.1:n.342G>A
ENST00000673284.1:c.1330G>A ENSP00000499852.1:p.Gly444Ser
ENST00000336642.8:c.382G>A ENSP00000338009.4:p.Gly128Ser
ENST00000345378.6:c.1333G>A ENSP00000223366.2:p.Gly445Ser
ENST00000395796.7:c.1327G>A ENSP00000379142.3:p.Gly443Ser
ENST00000403799.7:c.1330G>A ENSP00000384247.3:p.Gly444Ser
ENST00000437084.1:c.1279G>A ENSP00000402840.1:p.Gly427Ser
ENST00000459642.1:n.710G>A
ENST00000616242.4:c.1327G>A ENSP00000482149.1:p.Gly443Ser
NM_000162.3:c.1330G>A NP_000153.1:p.Gly444Ser
NM_033507.1:c.1333G>A NP_277042.1:p.Gly445Ser
NM_033508.1:c.1327G>A NP_277043.1:p.Gly443Ser
NM_000162.4:c.1330G>A NP_000153.1:p.Gly444Ser
NM_001354800.1:c.1330G>A NP_001341729.1:p.Gly444Ser
NM_001354801.1:c.319G>A NP_001341730.1:p.Gly107Ser
NM_001354802.1:c.190G>A NP_001341731.1:p.Gly64Ser
NM_001354803.1:c.364G>A NP_001341732.1:p.Gly122Ser
NM_033507.2:c.1333G>A NP_277042.1:p.Gly445Ser
NM_033508.2:c.1327G>A NP_277043.1:p.Gly443Ser
XM_024446707.1:c.190G>A XP_024302475.1:p.Gly64Ser
NM_000162.5:c.1330G>A MANE Select NP_000153.1:p.Gly444Ser
NM_033507.3:c.1333G>A NP_277042.1:p.Gly445Ser
NM_033508.3:c.1327G>A NP_277043.1:p.Gly443Ser
NM_001354803.2:c.364G>A NP_001341732.1:p.Gly122Ser