Canonical Allele Identifier: CA367401517
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2499721
ClinVar RCV Id: RCV003223813
MyVariant Identifiers: chr7:g.44189571T>G (hg19) chr7:g.44149972T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149972T>G , CM000669.2:g.44149972T>G GRCh38
NC_000007.13:g.44189571T>G , CM000669.1:g.44189571T>G GRCh37
NC_000007.12:g.44156096T>G NCBI36
NG_008847.1:g.44452A>C
NG_008847.2:g.53199A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*574A>C ENSP00000379142.4:n.*574A>C
ENST00000616242.5:c.576A>C ENSP00000482149.2:p.Arg192Ser
ENST00000682635.1:n.1062A>C
ENST00000345378.7:c.579A>C ENSP00000223366.2:p.Arg193Ser
ENST00000403799.8:c.576A>C MANE Select ENSP00000384247.3:p.Arg192Ser
ENST00000671824.1:c.576A>C ENSP00000500264.1:p.Arg192Ser
ENST00000673284.1:c.576A>C ENSP00000499852.1:p.Arg192Ser
ENST00000345378.6:c.579A>C ENSP00000223366.2:p.Arg193Ser
ENST00000395796.7:c.573A>C ENSP00000379142.3:p.Arg191Ser
ENST00000403799.7:c.576A>C ENSP00000384247.3:p.Arg192Ser
ENST00000437084.1:c.525A>C ENSP00000402840.1:p.Arg175Ser
ENST00000616242.4:c.573A>C ENSP00000482149.1:p.Arg191Ser
NM_000162.3:c.576A>C NP_000153.1:p.Arg192Ser
NM_033507.1:c.579A>C NP_277042.1:p.Arg193Ser
NM_033508.1:c.573A>C NP_277043.1:p.Arg191Ser
NM_000162.4:c.576A>C NP_000153.1:p.Arg192Ser
NM_001354800.1:c.576A>C NP_001341729.1:p.Arg192Ser
NM_033507.2:c.579A>C NP_277042.1:p.Arg193Ser
NM_033508.2:c.573A>C NP_277043.1:p.Arg191Ser
NM_000162.5:c.576A>C MANE Select NP_000153.1:p.Arg192Ser
NM_033507.3:c.579A>C NP_277042.1:p.Arg193Ser
NM_033508.3:c.573A>C NP_277043.1:p.Arg191Ser
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