Canonical Allele Identifier: CA367401645
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1747048
ClinVar RCV Id: RCV002347008
MyVariant Identifiers: chr7:g.44189612T>C (hg19) chr7:g.44150013T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150013T>C , CM000669.2:g.44150013T>C GRCh38
NC_000007.13:g.44189612T>C , CM000669.1:g.44189612T>C GRCh37
NC_000007.12:g.44156137T>C NCBI36
NG_008847.1:g.44411A>G
NG_008847.2:g.53158A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*533A>G ENSP00000379142.4:n.*533A>G
ENST00000616242.5:c.535A>G ENSP00000482149.2:p.Asn179Asp
ENST00000682635.1:n.1021A>G
ENST00000345378.7:c.538A>G ENSP00000223366.2:p.Asn180Asp
ENST00000403799.8:c.535A>G MANE Select ENSP00000384247.3:p.Asn179Asp
ENST00000671824.1:c.535A>G ENSP00000500264.1:p.Asn179Asp
ENST00000673284.1:c.535A>G ENSP00000499852.1:p.Asn179Asp
ENST00000345378.6:c.538A>G ENSP00000223366.2:p.Asn180Asp
ENST00000395796.7:c.532A>G ENSP00000379142.3:p.Asn178Asp
ENST00000403799.7:c.535A>G ENSP00000384247.3:p.Asn179Asp
ENST00000437084.1:c.484A>G ENSP00000402840.1:p.Asn162Asp
ENST00000616242.4:c.532A>G ENSP00000482149.1:p.Asn178Asp
NM_000162.3:c.535A>G NP_000153.1:p.Asn179Asp
NM_033507.1:c.538A>G NP_277042.1:p.Asn180Asp
NM_033508.1:c.532A>G NP_277043.1:p.Asn178Asp
NM_000162.4:c.535A>G NP_000153.1:p.Asn179Asp
NM_001354800.1:c.535A>G NP_001341729.1:p.Asn179Asp
NM_033507.2:c.538A>G NP_277042.1:p.Asn180Asp
NM_033508.2:c.532A>G NP_277043.1:p.Asn178Asp
NM_000162.5:c.535A>G MANE Select NP_000153.1:p.Asn179Asp
NM_033507.3:c.538A>G NP_277042.1:p.Asn180Asp
NM_033508.3:c.532A>G NP_277043.1:p.Asn178Asp
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