Canonical Allele Identifier: CA257435
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 16144
ClinVar RCV Id: RCV000017526
dbSNP Id: rs104894015

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149798T>C , CM000669.2:g.44149798T>C GRCh38
NC_000007.13:g.44189397T>C , CM000669.1:g.44189397T>C GRCh37
NC_000007.12:g.44155922T>C NCBI36
NG_008847.1:g.44626A>G
NG_008847.2:g.53373A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*639A>G ENSP00000379142.4:n.*639A>G
ENST00000616242.5:c.641A>G ENSP00000482149.2:p.Tyr214Cys
ENST00000682635.1:n.1127A>G
ENST00000345378.7:c.644A>G ENSP00000223366.2:p.Tyr215Cys
ENST00000403799.8:c.641A>G MANE Select ENSP00000384247.3:p.Tyr214Cys
ENST00000671824.1:c.641A>G ENSP00000500264.1:p.Tyr214Cys
ENST00000673284.1:c.641A>G ENSP00000499852.1:p.Tyr214Cys
ENST00000345378.6:c.644A>G ENSP00000223366.2:p.Tyr215Cys
ENST00000395796.7:c.638A>G ENSP00000379142.3:p.Tyr213Cys
ENST00000403799.7:c.641A>G ENSP00000384247.3:p.Tyr214Cys
ENST00000437084.1:c.590A>G ENSP00000402840.1:p.Tyr197Cys
ENST00000616242.4:c.638A>G ENSP00000482149.1:p.Tyr213Cys
NM_000162.3:c.641A>G NP_000153.1:p.Tyr214Cys
NM_033507.1:c.644A>G NP_277042.1:p.Tyr215Cys
NM_033508.1:c.638A>G NP_277043.1:p.Tyr213Cys
NM_000162.4:c.641A>G NP_000153.1:p.Tyr214Cys
NM_001354800.1:c.641A>G NP_001341729.1:p.Tyr214Cys
NM_033507.2:c.644A>G NP_277042.1:p.Tyr215Cys
NM_033508.2:c.638A>G NP_277043.1:p.Tyr213Cys
NM_000162.5:c.641A>G MANE Select NP_000153.1:p.Tyr214Cys
NM_033507.3:c.644A>G NP_277042.1:p.Tyr215Cys
NM_033508.3:c.638A>G NP_277043.1:p.Tyr213Cys