Canonical Allele Identifier: CA367401376
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 3234002
ClinVar RCV Id: RCV004527578
MyVariant Identifiers: chr7:g.44189433A>C (hg19) chr7:g.44149834A>C (hg38)
ERepo: CA367401376/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149834A>C , CM000669.2:g.44149834A>C GRCh38
NC_000007.13:g.44189433A>C , CM000669.1:g.44189433A>C GRCh37
NC_000007.12:g.44155958A>C NCBI36
NG_008847.1:g.44590T>G
NG_008847.2:g.53337T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*603T>G ENSP00000379142.4:n.*603T>G
ENST00000616242.5:c.605T>G ENSP00000482149.2:p.Met202Arg
ENST00000682635.1:n.1091T>G
ENST00000345378.7:c.608T>G ENSP00000223366.2:p.Met203Arg
ENST00000403799.8:c.605T>G MANE Select ENSP00000384247.3:p.Met202Arg
ENST00000671824.1:c.605T>G ENSP00000500264.1:p.Met202Arg
ENST00000673284.1:c.605T>G ENSP00000499852.1:p.Met202Arg
ENST00000345378.6:c.608T>G ENSP00000223366.2:p.Met203Arg
ENST00000395796.7:c.602T>G ENSP00000379142.3:p.Met201Arg
ENST00000403799.7:c.605T>G ENSP00000384247.3:p.Met202Arg
ENST00000437084.1:c.554T>G ENSP00000402840.1:p.Met185Arg
ENST00000616242.4:c.602T>G ENSP00000482149.1:p.Met201Arg
NM_000162.3:c.605T>G NP_000153.1:p.Met202Arg
NM_033507.1:c.608T>G NP_277042.1:p.Met203Arg
NM_033508.1:c.602T>G NP_277043.1:p.Met201Arg
NM_000162.4:c.605T>G NP_000153.1:p.Met202Arg
NM_001354800.1:c.605T>G NP_001341729.1:p.Met202Arg
NM_033507.2:c.608T>G NP_277042.1:p.Met203Arg
NM_033508.2:c.602T>G NP_277043.1:p.Met201Arg
NM_000162.5:c.605T>G MANE Select NP_000153.1:p.Met202Arg
NM_033507.3:c.608T>G NP_277042.1:p.Met203Arg
NM_033508.3:c.602T>G NP_277043.1:p.Met201Arg
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