Canonical Allele Identifier: CA367403390
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1709688
ClinVar RCV Id: RCV002289503
MyVariant Identifiers: chr7:g.44192959T>A (hg19) chr7:g.44153360T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153360T>A , CM000669.2:g.44153360T>A GRCh38
NC_000007.13:g.44192959T>A , CM000669.1:g.44192959T>A GRCh37
NC_000007.12:g.44159484T>A NCBI36
NG_008847.1:g.41064A>T
NG_008847.2:g.49811A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*147A>T ENSP00000379142.4:n.*147A>T
ENST00000616242.5:c.149A>T ENSP00000482149.2:p.His50Leu
ENST00000682635.1:n.635A>T
ENST00000345378.7:c.152A>T ENSP00000223366.2:p.His51Leu
ENST00000403799.8:c.149A>T MANE Select ENSP00000384247.3:p.His50Leu
ENST00000671824.1:c.149A>T ENSP00000500264.1:p.His50Leu
ENST00000673284.1:c.149A>T ENSP00000499852.1:p.His50Leu
ENST00000345378.6:c.152A>T ENSP00000223366.2:p.His51Leu
ENST00000395796.7:c.146A>T ENSP00000379142.3:p.His49Leu
ENST00000403799.7:c.149A>T ENSP00000384247.3:p.His50Leu
ENST00000437084.1:c.149A>T ENSP00000402840.1:p.His50Leu
ENST00000616242.4:c.146A>T ENSP00000482149.1:p.His49Leu
NM_000162.3:c.149A>T NP_000153.1:p.His50Leu
NM_033507.1:c.152A>T NP_277042.1:p.His51Leu
NM_033508.1:c.146A>T NP_277043.1:p.His49Leu
NM_000162.4:c.149A>T NP_000153.1:p.His50Leu
NM_001354800.1:c.149A>T NP_001341729.1:p.His50Leu
NM_033507.2:c.152A>T NP_277042.1:p.His51Leu
NM_033508.2:c.146A>T NP_277043.1:p.His49Leu
NM_000162.5:c.149A>T MANE Select NP_000153.1:p.His50Leu
NM_033507.3:c.152A>T NP_277042.1:p.His51Leu
NM_033508.3:c.146A>T NP_277043.1:p.His49Leu
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