Canonical Allele Identifier: CA2695203079
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2735001
ClinVar RCV Id: RCV003555332
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147645C>A , CM000669.2:g.44147645C>A GRCh38
NC_000007.13:g.44187244C>A , CM000669.1:g.44187244C>A GRCh37
NC_000007.12:g.44153769C>A NCBI36
NG_008847.1:g.46779G>T
NG_008847.2:g.55526G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*861+5G>T ENSP00000379142.4:n.*861+5G>T
ENST00000616242.5:c.853+15G>T ENSP00000482149.2:n.853+15G>T
ENST00000345378.7:c.866+5G>T ENSP00000223366.2:n.866+5G>T
ENST00000403799.8:c.863+5G>T MANE Select ENSP00000384247.3:n.863+5G>T
ENST00000671824.1:c.853+15G>T ENSP00000500264.1:n.853+15G>T
ENST00000673284.1:c.863+5G>T ENSP00000499852.1:n.863+5G>T
ENST00000345378.6:c.866+5G>T ENSP00000223366.2:n.866+5G>T
ENST00000395796.7:c.860+5G>T ENSP00000379142.3:n.860+5G>T
ENST00000403799.7:c.863+5G>T ENSP00000384247.3:n.863+5G>T
ENST00000437084.1:c.812+5G>T ENSP00000402840.1:n.812+5G>T
ENST00000616242.4:c.860+5G>T ENSP00000482149.1:n.860+5G>T
NM_000162.3:c.863+5G>T NP_000153.1:n.863+5G>T
NM_033507.1:c.866+5G>T NP_277042.1:n.866+5G>T
NM_033508.1:c.860+5G>T NP_277043.1:n.860+5G>T
NM_000162.4:c.863+5G>T NP_000153.1:n.863+5G>T
NM_001354800.1:c.863+5G>T NP_001341729.1:n.863+5G>T
NM_033507.2:c.866+5G>T NP_277042.1:n.866+5G>T
NM_033508.2:c.860+5G>T NP_277043.1:n.860+5G>T
NM_000162.5:c.863+5G>T MANE Select NP_000153.1:n.863+5G>T
NM_033507.3:c.866+5G>T NP_277042.1:n.866+5G>T
NM_033508.3:c.860+5G>T NP_277043.1:n.860+5G>T
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