Canonical Allele Identifier: CA367400748
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 585925
ClinVar RCV Id: RCV000711784 RCV002463731
dbSNP Id: rs1562715620
MyVariant Identifiers: chr7:g.44187411T>C (hg19) chr7:g.44147812T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147812T>C , CM000669.2:g.44147812T>C GRCh38
NC_000007.13:g.44187411T>C , CM000669.1:g.44187411T>C GRCh37
NC_000007.12:g.44153936T>C NCBI36
NG_008847.1:g.46612A>G
NG_008847.2:g.55359A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*699A>G ENSP00000379142.4:n.*699A>G
ENST00000616242.5:c.701A>G ENSP00000482149.2:p.Tyr234Cys
ENST00000345378.7:c.704A>G ENSP00000223366.2:p.Tyr235Cys
ENST00000403799.8:c.701A>G MANE Select ENSP00000384247.3:p.Tyr234Cys
ENST00000671824.1:c.701A>G ENSP00000500264.1:p.Tyr234Cys
ENST00000673284.1:c.701A>G ENSP00000499852.1:p.Tyr234Cys
ENST00000345378.6:c.704A>G ENSP00000223366.2:p.Tyr235Cys
ENST00000395796.7:c.698A>G ENSP00000379142.3:p.Tyr233Cys
ENST00000403799.7:c.701A>G ENSP00000384247.3:p.Tyr234Cys
ENST00000437084.1:c.650A>G ENSP00000402840.1:p.Tyr217Cys
ENST00000616242.4:c.698A>G ENSP00000482149.1:p.Tyr233Cys
NM_000162.3:c.701A>G NP_000153.1:p.Tyr234Cys
NM_033507.1:c.704A>G NP_277042.1:p.Tyr235Cys
NM_033508.1:c.698A>G NP_277043.1:p.Tyr233Cys
XR_927223.1:n.82+64T>C
NM_000162.4:c.701A>G NP_000153.1:p.Tyr234Cys
NM_001354800.1:c.701A>G NP_001341729.1:p.Tyr234Cys
NM_033507.2:c.704A>G NP_277042.1:p.Tyr235Cys
NM_033508.2:c.698A>G NP_277043.1:p.Tyr233Cys
XR_927223.2:n.82+64T>C
NM_000162.5:c.701A>G MANE Select NP_000153.1:p.Tyr234Cys
NM_033507.3:c.704A>G NP_277042.1:p.Tyr235Cys
NM_033508.3:c.698A>G NP_277043.1:p.Tyr233Cys
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