Canonical Allele Identifier: CA367399330
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1334828818
gnomAD v2: 7-44185312-T-C
gnomAD v4: 7-44145713-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145713T>C , CM000669.2:g.44145713T>C GRCh38
NC_000007.13:g.44185312T>C , CM000669.1:g.44185312T>C GRCh37
NC_000007.12:g.44151837T>C NCBI36
NG_008847.1:g.48711A>G
NG_008847.2:g.57458A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1035A>G ENSP00000379142.4:n.*1035A>G
ENST00000616242.5:c.*157A>G ENSP00000482149.2:n.*157A>G
ENST00000683378.1:n.263A>G
ENST00000336642.9:c.71A>G ENSP00000338009.5:p.Lys24Arg
ENST00000345378.7:c.1040A>G ENSP00000223366.2:p.Lys347Arg
ENST00000403799.8:c.1037A>G MANE Select ENSP00000384247.3:p.Lys346Arg
ENST00000671824.1:c.1100A>G ENSP00000500264.1:p.Lys367Arg
ENST00000672743.1:n.49A>G
ENST00000673284.1:c.1037A>G ENSP00000499852.1:p.Lys346Arg
ENST00000336642.8:c.89A>G ENSP00000338009.4:p.Lys30Arg
ENST00000345378.6:c.1040A>G ENSP00000223366.2:p.Lys347Arg
ENST00000395796.7:c.1034A>G ENSP00000379142.3:p.Lys345Arg
ENST00000403799.7:c.1037A>G ENSP00000384247.3:p.Lys346Arg
ENST00000437084.1:c.986A>G ENSP00000402840.1:p.Lys329Arg
ENST00000459642.1:n.417A>G
ENST00000473353.1:n.335A>G
ENST00000616242.4:c.1034A>G ENSP00000482149.1:p.Lys345Arg
NM_000162.3:c.1037A>G NP_000153.1:p.Lys346Arg
NM_033507.1:c.1040A>G NP_277042.1:p.Lys347Arg
NM_033508.1:c.1034A>G NP_277043.1:p.Lys345Arg
NM_000162.4:c.1037A>G NP_000153.1:p.Lys346Arg
NM_001354800.1:c.1037A>G NP_001341729.1:p.Lys346Arg
NM_001354801.1:c.26A>G NP_001341730.1:p.Lys9Arg
NM_001354802.1:c.-104A>G NP_001341731.1:n.-104A>G
NM_001354803.1:c.71A>G NP_001341732.1:p.Lys24Arg
NM_033507.2:c.1040A>G NP_277042.1:p.Lys347Arg
NM_033508.2:c.1034A>G NP_277043.1:p.Lys345Arg
XM_024446707.1:c.-104A>G XP_024302475.1:n.-104A>G
NM_000162.5:c.1037A>G MANE Select NP_000153.1:p.Lys346Arg
NM_033507.3:c.1040A>G NP_277042.1:p.Lys347Arg
NM_033508.3:c.1034A>G NP_277043.1:p.Lys345Arg
NM_001354803.2:c.71A>G NP_001341732.1:p.Lys24Arg