Canonical Allele Identifier: CA367403541
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2578357
ClinVar RCV Id: RCV003326083
MyVariant Identifiers: chr7:g.44192998A>C (hg19) chr7:g.44153399A>C (hg38)
ERepo: CA367403541/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153399A>C , CM000669.2:g.44153399A>C GRCh38
NC_000007.13:g.44192998A>C , CM000669.1:g.44192998A>C GRCh37
NC_000007.12:g.44159523A>C NCBI36
NG_008847.1:g.41025T>G
NG_008847.2:g.49772T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*108T>G ENSP00000379142.4:n.*108T>G
ENST00000616242.5:c.110T>G ENSP00000482149.2:p.Met37Arg
ENST00000682635.1:n.596T>G
ENST00000345378.7:c.113T>G ENSP00000223366.2:p.Met38Arg
ENST00000403799.8:c.110T>G MANE Select ENSP00000384247.3:p.Met37Arg
ENST00000671824.1:c.110T>G ENSP00000500264.1:p.Met37Arg
ENST00000673284.1:c.110T>G ENSP00000499852.1:p.Met37Arg
ENST00000345378.6:c.113T>G ENSP00000223366.2:p.Met38Arg
ENST00000395796.7:c.107T>G ENSP00000379142.3:p.Met36Arg
ENST00000403799.7:c.110T>G ENSP00000384247.3:p.Met37Arg
ENST00000437084.1:c.110T>G ENSP00000402840.1:p.Met37Arg
ENST00000476008.1:n.545T>G
ENST00000616242.4:c.107T>G ENSP00000482149.1:p.Met36Arg
NM_000162.3:c.110T>G NP_000153.1:p.Met37Arg
NM_033507.1:c.113T>G NP_277042.1:p.Met38Arg
NM_033508.1:c.107T>G NP_277043.1:p.Met36Arg
NM_000162.4:c.110T>G NP_000153.1:p.Met37Arg
NM_001354800.1:c.110T>G NP_001341729.1:p.Met37Arg
NM_033507.2:c.113T>G NP_277042.1:p.Met38Arg
NM_033508.2:c.107T>G NP_277043.1:p.Met36Arg
NM_000162.5:c.110T>G MANE Select NP_000153.1:p.Met37Arg
NM_033507.3:c.113T>G NP_277042.1:p.Met38Arg
NM_033508.3:c.107T>G NP_277043.1:p.Met36Arg
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