Canonical Allele Identifier: CA213705
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36171
ClinVar RCV Id: RCV000029834 RCV002463995
dbSNP Id: rs193922259
MyVariant Identifiers: chr7:g.44193005T>A (hg19) chr7:g.44153406T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153406T>A , CM000669.2:g.44153406T>A GRCh38
NC_000007.13:g.44193005T>A , CM000669.1:g.44193005T>A GRCh37
NC_000007.12:g.44159530T>A NCBI36
NG_008847.1:g.41018A>T
NG_008847.2:g.49765A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*101A>T ENSP00000379142.4:n.*101A>T
ENST00000616242.5:c.103A>T ENSP00000482149.2:p.Arg35Ter
ENST00000682635.1:n.589A>T
ENST00000345378.7:c.106A>T ENSP00000223366.2:p.Arg36Ter
ENST00000403799.8:c.103A>T MANE Select ENSP00000384247.3:p.Arg35Ter
ENST00000671824.1:c.103A>T ENSP00000500264.1:p.Arg35Ter
ENST00000673284.1:c.103A>T ENSP00000499852.1:p.Arg35Ter
ENST00000345378.6:c.106A>T ENSP00000223366.2:p.Arg36Ter
ENST00000395796.7:c.100A>T ENSP00000379142.3:p.Arg34Ter
ENST00000403799.7:c.103A>T ENSP00000384247.3:p.Arg35Ter
ENST00000437084.1:c.103A>T ENSP00000402840.1:p.Arg35Ter
ENST00000476008.1:n.538A>T
ENST00000616242.4:c.100A>T ENSP00000482149.1:p.Arg34Ter
NM_000162.3:c.103A>T NP_000153.1:p.Arg35Ter
NM_033507.1:c.106A>T NP_277042.1:p.Arg36Ter
NM_033508.1:c.100A>T NP_277043.1:p.Arg34Ter
NM_000162.4:c.103A>T NP_000153.1:p.Arg35Ter
NM_001354800.1:c.103A>T NP_001341729.1:p.Arg35Ter
NM_033507.2:c.106A>T NP_277042.1:p.Arg36Ter
NM_033508.2:c.100A>T NP_277043.1:p.Arg34Ter
NM_000162.5:c.103A>T MANE Select NP_000153.1:p.Arg35Ter
NM_033507.3:c.106A>T NP_277042.1:p.Arg36Ter
NM_033508.3:c.100A>T NP_277043.1:p.Arg34Ter
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