Canonical Allele Identifier: CA454592033
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2136533
ClinVar RCV Id: RCV003037225 RCV003234596 RCV003388145
MyVariant Identifiers: chr7:g.44228508C>T (hg19)
ERepo: CA454592033/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44188909C>T , CM000669.2:g.44188909C>T GRCh38
NC_000007.13:g.44228508C>T , CM000669.1:g.44228508C>T GRCh37
NC_000007.12:g.44195033C>T NCBI36
NG_008847.1:g.5515G>A
NG_008847.2:g.14262G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000616242.5:c.45G>A ENSP00000482149.2:p.Lys15=
ENST00000682635.1:n.531G>A
ENST00000403799.8:c.45G>A MANE Select ENSP00000384247.3:p.Lys15=
ENST00000671824.1:c.45G>A ENSP00000500264.1:p.Lys15=
ENST00000673284.1:c.45G>A ENSP00000499852.1:p.Lys15=
ENST00000403799.7:c.45G>A ENSP00000384247.3:p.Lys15=
ENST00000437084.1:c.45G>A ENSP00000402840.1:p.Lys15=
ENST00000476008.1:n.480+8782G>A
NM_000162.3:c.45G>A NP_000153.1:p.Lys15=
NM_000162.4:c.45G>A NP_000153.1:p.Lys15=
NM_001354800.1:c.45G>A NP_001341729.1:p.Lys15=
NM_000162.5:c.45G>A MANE Select NP_000153.1:p.Lys15=
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