Canonical Allele Identifier: CA367402681
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2682653
ClinVar RCV Id: RCV003481520
MyVariant Identifiers: chr7:g.44191909G>T (hg19) chr7:g.44152310G>T (hg38)
ERepo: CA367402681/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44152310G>T , CM000669.2:g.44152310G>T GRCh38
NC_000007.13:g.44191909G>T , CM000669.1:g.44191909G>T GRCh37
NC_000007.12:g.44158434G>T NCBI36
NG_008847.1:g.42114C>A
NG_008847.2:g.50861C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*322C>A ENSP00000379142.4:n.*322C>A
ENST00000616242.5:c.324C>A ENSP00000482149.2:p.Tyr108Ter
ENST00000682635.1:n.810C>A
ENST00000345378.7:c.327C>A ENSP00000223366.2:p.Tyr109Ter
ENST00000403799.8:c.324C>A MANE Select ENSP00000384247.3:p.Tyr108Ter
ENST00000671824.1:c.324C>A ENSP00000500264.1:p.Tyr108Ter
ENST00000673284.1:c.324C>A ENSP00000499852.1:p.Tyr108Ter
ENST00000345378.6:c.327C>A ENSP00000223366.2:p.Tyr109Ter
ENST00000395796.7:c.321C>A ENSP00000379142.3:p.Tyr107Ter
ENST00000403799.7:c.324C>A ENSP00000384247.3:p.Tyr108Ter
ENST00000437084.1:c.324C>A ENSP00000402840.1:p.Tyr108Ter
ENST00000616242.4:c.321C>A ENSP00000482149.1:p.Tyr107Ter
NM_000162.3:c.324C>A NP_000153.1:p.Tyr108Ter
NM_033507.1:c.327C>A NP_277042.1:p.Tyr109Ter
NM_033508.1:c.321C>A NP_277043.1:p.Tyr107Ter
NM_000162.4:c.324C>A NP_000153.1:p.Tyr108Ter
NM_001354800.1:c.324C>A NP_001341729.1:p.Tyr108Ter
NM_033507.2:c.327C>A NP_277042.1:p.Tyr109Ter
NM_033508.2:c.321C>A NP_277043.1:p.Tyr107Ter
NM_000162.5:c.324C>A MANE Select NP_000153.1:p.Tyr108Ter
NM_033507.3:c.327C>A NP_277042.1:p.Tyr109Ter
NM_033508.3:c.321C>A NP_277043.1:p.Tyr107Ter
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