Canonical Allele Identifier: CA213838
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36250
ClinVar RCV Id: RCV000029913 RCV002464075 RCV003565387
dbSNP Id: rs193922325
MyVariant Identifiers: chr7:g.44193034A>C (hg19) chr7:g.44153435A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153435A>C , CM000669.2:g.44153435A>C GRCh38
NC_000007.13:g.44193034A>C , CM000669.1:g.44193034A>C GRCh37
NC_000007.12:g.44159559A>C NCBI36
NG_008847.1:g.40989T>G
NG_008847.2:g.49736T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*72T>G ENSP00000379142.4:n.*72T>G
ENST00000616242.5:c.74T>G ENSP00000482149.2:p.Leu25Arg
ENST00000682635.1:n.560T>G
ENST00000345378.7:c.77T>G ENSP00000223366.2:p.Leu26Arg
ENST00000403799.8:c.74T>G MANE Select ENSP00000384247.3:p.Leu25Arg
ENST00000671824.1:c.74T>G ENSP00000500264.1:p.Leu25Arg
ENST00000673284.1:c.74T>G ENSP00000499852.1:p.Leu25Arg
ENST00000345378.6:c.77T>G ENSP00000223366.2:p.Leu26Arg
ENST00000395796.7:c.71T>G ENSP00000379142.3:p.Leu24Arg
ENST00000403799.7:c.74T>G ENSP00000384247.3:p.Leu25Arg
ENST00000437084.1:c.74T>G ENSP00000402840.1:p.Leu25Arg
ENST00000476008.1:n.509T>G
ENST00000616242.4:c.71T>G ENSP00000482149.1:p.Leu24Arg
NM_000162.3:c.74T>G NP_000153.1:p.Leu25Arg
NM_033507.1:c.77T>G NP_277042.1:p.Leu26Arg
NM_033508.1:c.71T>G NP_277043.1:p.Leu24Arg
NM_000162.4:c.74T>G NP_000153.1:p.Leu25Arg
NM_001354800.1:c.74T>G NP_001341729.1:p.Leu25Arg
NM_033507.2:c.77T>G NP_277042.1:p.Leu26Arg
NM_033508.2:c.71T>G NP_277043.1:p.Leu24Arg
NM_000162.5:c.74T>G MANE Select NP_000153.1:p.Leu25Arg
NM_033507.3:c.77T>G NP_277042.1:p.Leu26Arg
NM_033508.3:c.71T>G NP_277043.1:p.Leu24Arg
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