Canonical Allele Identifier: CA367401344

Gene: GCK

Linked Data

• ClinVar Variation Id: 1679543
• ClinVar RCV Id: RCV002227422
• dbSNP Id: rs2128821509
• MyVariant Identifiers: chr7:g.44189424T>C (hg19) ; chr7:g.44149825T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149825T>C , CM000669.2:g.44149825T>C	GRCh38
NC_000007.13:g.44189424T>C , CM000669.1:g.44189424T>C	GRCh37
NC_000007.12:g.44155949T>C	NCBI36
NG_008847.1:g.44599A>G
NG_008847.2:g.53346A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*612A>G	ENSP00000379142.4:n.*612A>G
ENST00000616242.5:c.614A>G	ENSP00000482149.2:p.Asp205Gly
ENST00000682635.1:n.1100A>G
ENST00000345378.7:c.617A>G	ENSP00000223366.2:p.Asp206Gly
ENST00000403799.8:c.614A>G MANE Select	ENSP00000384247.3:p.Asp205Gly
ENST00000671824.1:c.614A>G	ENSP00000500264.1:p.Asp205Gly
ENST00000673284.1:c.614A>G	ENSP00000499852.1:p.Asp205Gly
ENST00000345378.6:c.617A>G	ENSP00000223366.2:p.Asp206Gly
ENST00000395796.7:c.611A>G	ENSP00000379142.3:p.Asp204Gly
ENST00000403799.7:c.614A>G	ENSP00000384247.3:p.Asp205Gly
ENST00000437084.1:c.563A>G	ENSP00000402840.1:p.Asp188Gly
ENST00000616242.4:c.611A>G	ENSP00000482149.1:p.Asp204Gly
NM_000162.3:c.614A>G	NP_000153.1:p.Asp205Gly
NM_033507.1:c.617A>G	NP_277042.1:p.Asp206Gly
NM_033508.1:c.611A>G	NP_277043.1:p.Asp204Gly
NM_000162.4:c.614A>G	NP_000153.1:p.Asp205Gly
NM_001354800.1:c.614A>G	NP_001341729.1:p.Asp205Gly
NM_033507.2:c.617A>G	NP_277042.1:p.Asp206Gly
NM_033508.2:c.611A>G	NP_277043.1:p.Asp204Gly
NM_000162.5:c.614A>G MANE Select	NP_000153.1:p.Asp205Gly
NM_033507.3:c.617A>G	NP_277042.1:p.Asp206Gly
NM_033508.3:c.611A>G	NP_277043.1:p.Asp204Gly