Canonical Allele Identifier: CA367401688
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2691829
ClinVar RCV Id: RCV003494026 RCV003908985
MyVariant Identifiers: chr7:g.44189626G>A (hg19) chr7:g.44150027G>A (hg38)
ERepo: CA367401688/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150027G>A , CM000669.2:g.44150027G>A GRCh38
NC_000007.13:g.44189626G>A , CM000669.1:g.44189626G>A GRCh37
NC_000007.12:g.44156151G>A NCBI36
NG_008847.1:g.44397C>T
NG_008847.2:g.53144C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*519C>T ENSP00000379142.4:n.*519C>T
ENST00000616242.5:c.521C>T ENSP00000482149.2:p.Ser174Leu
ENST00000682635.1:n.1007C>T
ENST00000345378.7:c.524C>T ENSP00000223366.2:p.Ser175Leu
ENST00000403799.8:c.521C>T MANE Select ENSP00000384247.3:p.Ser174Leu
ENST00000671824.1:c.521C>T ENSP00000500264.1:p.Ser174Leu
ENST00000673284.1:c.521C>T ENSP00000499852.1:p.Ser174Leu
ENST00000345378.6:c.524C>T ENSP00000223366.2:p.Ser175Leu
ENST00000395796.7:c.518C>T ENSP00000379142.3:p.Ser173Leu
ENST00000403799.7:c.521C>T ENSP00000384247.3:p.Ser174Leu
ENST00000437084.1:c.470C>T ENSP00000402840.1:p.Ser157Leu
ENST00000616242.4:c.518C>T ENSP00000482149.1:p.Ser173Leu
NM_000162.3:c.521C>T NP_000153.1:p.Ser174Leu
NM_033507.1:c.524C>T NP_277042.1:p.Ser175Leu
NM_033508.1:c.518C>T NP_277043.1:p.Ser173Leu
NM_000162.4:c.521C>T NP_000153.1:p.Ser174Leu
NM_001354800.1:c.521C>T NP_001341729.1:p.Ser174Leu
NM_033507.2:c.524C>T NP_277042.1:p.Ser175Leu
NM_033508.2:c.518C>T NP_277043.1:p.Ser173Leu
NM_000162.5:c.521C>T MANE Select NP_000153.1:p.Ser174Leu
NM_033507.3:c.524C>T NP_277042.1:p.Ser175Leu
NM_033508.3:c.518C>T NP_277043.1:p.Ser173Leu
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