Canonical Allele Identifier: CA367400762
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1756314
ClinVar RCV Id: RCV002362470
MyVariant Identifiers: chr7:g.44187417G>T (hg19) chr7:g.44147818G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147818G>T , CM000669.2:g.44147818G>T GRCh38
NC_000007.13:g.44187417G>T , CM000669.1:g.44187417G>T GRCh37
NC_000007.12:g.44153942G>T NCBI36
NG_008847.1:g.46606C>A
NG_008847.2:g.55353C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*693C>A ENSP00000379142.4:n.*693C>A
ENST00000616242.5:c.695C>A ENSP00000482149.2:p.Ala232Asp
ENST00000345378.7:c.698C>A ENSP00000223366.2:p.Ala233Asp
ENST00000403799.8:c.695C>A MANE Select ENSP00000384247.3:p.Ala232Asp
ENST00000671824.1:c.695C>A ENSP00000500264.1:p.Ala232Asp
ENST00000673284.1:c.695C>A ENSP00000499852.1:p.Ala232Asp
ENST00000345378.6:c.698C>A ENSP00000223366.2:p.Ala233Asp
ENST00000395796.7:c.692C>A ENSP00000379142.3:p.Ala231Asp
ENST00000403799.7:c.695C>A ENSP00000384247.3:p.Ala232Asp
ENST00000437084.1:c.644C>A ENSP00000402840.1:p.Ala215Asp
ENST00000616242.4:c.692C>A ENSP00000482149.1:p.Ala231Asp
NM_000162.3:c.695C>A NP_000153.1:p.Ala232Asp
NM_033507.1:c.698C>A NP_277042.1:p.Ala233Asp
NM_033508.1:c.692C>A NP_277043.1:p.Ala231Asp
XR_927223.1:n.82+70G>T
NM_000162.4:c.695C>A NP_000153.1:p.Ala232Asp
NM_001354800.1:c.695C>A NP_001341729.1:p.Ala232Asp
NM_033507.2:c.698C>A NP_277042.1:p.Ala233Asp
NM_033508.2:c.692C>A NP_277043.1:p.Ala231Asp
XR_927223.2:n.82+70G>T
NM_000162.5:c.695C>A MANE Select NP_000153.1:p.Ala232Asp
NM_033507.3:c.698C>A NP_277042.1:p.Ala233Asp
NM_033508.3:c.692C>A NP_277043.1:p.Ala231Asp
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