Canonical Allele Identifier: CA231135
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 129142
ClinVar RCV Id: RCV000117129 RCV003226201
dbSNP Id: rs193922297
MyVariant Identifiers: chr7:g.44190589A>T (hg19) chr7:g.44150990A>T (hg38)
ERepo: CA231135/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150990A>T , CM000669.2:g.44150990A>T GRCh38
NC_000007.13:g.44190589A>T , CM000669.1:g.44190589A>T GRCh37
NC_000007.12:g.44157114A>T NCBI36
NG_008847.1:g.43434T>A
NG_008847.2:g.52181T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*447T>A ENSP00000379142.4:n.*447T>A
ENST00000616242.5:c.449T>A ENSP00000482149.2:p.Phe150Tyr
ENST00000682635.1:n.935T>A
ENST00000345378.7:c.452T>A ENSP00000223366.2:p.Phe151Tyr
ENST00000403799.8:c.449T>A MANE Select ENSP00000384247.3:p.Phe150Tyr
ENST00000671824.1:c.449T>A ENSP00000500264.1:p.Phe150Tyr
ENST00000673284.1:c.449T>A ENSP00000499852.1:p.Phe150Tyr
ENST00000345378.6:c.452T>A ENSP00000223366.2:p.Phe151Tyr
ENST00000395796.7:c.446T>A ENSP00000379142.3:p.Phe149Tyr
ENST00000403799.7:c.449T>A ENSP00000384247.3:p.Phe150Tyr
ENST00000437084.1:c.398T>A ENSP00000402840.1:p.Phe133Tyr
ENST00000616242.4:c.446T>A ENSP00000482149.1:p.Phe149Tyr
NM_000162.3:c.449T>A NP_000153.1:p.Phe150Tyr
NM_033507.1:c.452T>A NP_277042.1:p.Phe151Tyr
NM_033508.1:c.446T>A NP_277043.1:p.Phe149Tyr
NM_000162.4:c.449T>A NP_000153.1:p.Phe150Tyr
NM_001354800.1:c.449T>A NP_001341729.1:p.Phe150Tyr
NM_033507.2:c.452T>A NP_277042.1:p.Phe151Tyr
NM_033508.2:c.446T>A NP_277043.1:p.Phe149Tyr
NM_000162.5:c.449T>A MANE Select NP_000153.1:p.Phe150Tyr
NM_033507.3:c.452T>A NP_277042.1:p.Phe151Tyr
NM_033508.3:c.446T>A NP_277043.1:p.Phe149Tyr
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