Canonical Allele Identifier: CA454606363
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1309963671
gnomAD v4: 7-44145187-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145187C>T , CM000669.2:g.44145187C>T GRCh38
NC_000007.13:g.44184786C>T , CM000669.1:g.44184786C>T GRCh37
NC_000007.12:g.44151311C>T NCBI36
NG_008847.1:g.49237G>A
NG_008847.2:g.57984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1345G>A ENSP00000379142.4:n.*1345G>A
ENST00000616242.5:c.*467G>A ENSP00000482149.2:n.*467G>A
ENST00000683378.1:n.573G>A
ENST00000336642.9:c.381G>A ENSP00000338009.5:p.Ala127=
ENST00000345378.7:c.1350G>A ENSP00000223366.2:p.Ala450=
ENST00000403799.8:c.1347G>A MANE Select ENSP00000384247.3:p.Ala449=
ENST00000671824.1:c.1410G>A ENSP00000500264.1:p.Ala470=
ENST00000672743.1:n.359G>A
ENST00000673284.1:c.1347G>A ENSP00000499852.1:p.Ala449=
ENST00000336642.8:c.399G>A ENSP00000338009.4:p.Ala133=
ENST00000345378.6:c.1350G>A ENSP00000223366.2:p.Ala450=
ENST00000395796.7:c.1344G>A ENSP00000379142.3:p.Ala448=
ENST00000403799.7:c.1347G>A ENSP00000384247.3:p.Ala449=
ENST00000437084.1:c.1296G>A ENSP00000402840.1:p.Ala432=
ENST00000459642.1:n.727G>A
ENST00000616242.4:c.1344G>A ENSP00000482149.1:p.Ala448=
NM_000162.3:c.1347G>A NP_000153.1:p.Ala449=
NM_033507.1:c.1350G>A NP_277042.1:p.Ala450=
NM_033508.1:c.1344G>A NP_277043.1:p.Ala448=
NM_000162.4:c.1347G>A NP_000153.1:p.Ala449=
NM_001354800.1:c.1347G>A NP_001341729.1:p.Ala449=
NM_001354801.1:c.336G>A NP_001341730.1:p.Ala112=
NM_001354802.1:c.207G>A NP_001341731.1:p.Ala69=
NM_001354803.1:c.381G>A NP_001341732.1:p.Ala127=
NM_033507.2:c.1350G>A NP_277042.1:p.Ala450=
NM_033508.2:c.1344G>A NP_277043.1:p.Ala448=
XM_024446707.1:c.207G>A XP_024302475.1:p.Ala69=
NM_000162.5:c.1347G>A MANE Select NP_000153.1:p.Ala449=
NM_033507.3:c.1350G>A NP_277042.1:p.Ala450=
NM_033508.3:c.1344G>A NP_277043.1:p.Ala448=
NM_001354803.2:c.381G>A NP_001341732.1:p.Ala127=