Canonical Allele Identifier: CA367403586
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1679551
ClinVar RCV Id: RCV002227430
dbSNP Id: rs2096283252
MyVariant Identifiers: chr7:g.44193006C>T (hg19) chr7:g.44153407C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153407C>T , CM000669.2:g.44153407C>T GRCh38
NC_000007.13:g.44193006C>T , CM000669.1:g.44193006C>T GRCh37
NC_000007.12:g.44159531C>T NCBI36
NG_008847.1:g.41017G>A
NG_008847.2:g.49764G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*100G>A ENSP00000379142.4:n.*100G>A
ENST00000616242.5:c.102G>A ENSP00000482149.2:p.Met34Ile
ENST00000682635.1:n.588G>A
ENST00000345378.7:c.105G>A ENSP00000223366.2:p.Met35Ile
ENST00000403799.8:c.102G>A MANE Select ENSP00000384247.3:p.Met34Ile
ENST00000671824.1:c.102G>A ENSP00000500264.1:p.Met34Ile
ENST00000673284.1:c.102G>A ENSP00000499852.1:p.Met34Ile
ENST00000345378.6:c.105G>A ENSP00000223366.2:p.Met35Ile
ENST00000395796.7:c.99G>A ENSP00000379142.3:p.Met33Ile
ENST00000403799.7:c.102G>A ENSP00000384247.3:p.Met34Ile
ENST00000437084.1:c.102G>A ENSP00000402840.1:p.Met34Ile
ENST00000476008.1:n.537G>A
ENST00000616242.4:c.99G>A ENSP00000482149.1:p.Met33Ile
NM_000162.3:c.102G>A NP_000153.1:p.Met34Ile
NM_033507.1:c.105G>A NP_277042.1:p.Met35Ile
NM_033508.1:c.99G>A NP_277043.1:p.Met33Ile
NM_000162.4:c.102G>A NP_000153.1:p.Met34Ile
NM_001354800.1:c.102G>A NP_001341729.1:p.Met34Ile
NM_033507.2:c.105G>A NP_277042.1:p.Met35Ile
NM_033508.2:c.99G>A NP_277043.1:p.Met33Ile
NM_000162.5:c.102G>A MANE Select NP_000153.1:p.Met34Ile
NM_033507.3:c.105G>A NP_277042.1:p.Met35Ile
NM_033508.3:c.99G>A NP_277043.1:p.Met33Ile
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