Canonical Allele Identifier: CA367400582

Gene: GCK

Linked Data

• ClinVar Variation Id: 2578354
• ClinVar RCV Id: RCV003326080
• MyVariant Identifiers: chr7:g.44187337C>A (hg19) ; chr7:g.44147738C>A (hg38)
• ERepo: CA367400582/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147738C>A , CM000669.2:g.44147738C>A	GRCh38
NC_000007.13:g.44187337C>A , CM000669.1:g.44187337C>A	GRCh37
NC_000007.12:g.44153862C>A	NCBI36
NG_008847.1:g.46686G>T
NG_008847.2:g.55433G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*773G>T	ENSP00000379142.4:n.*773G>T
ENST00000616242.5:c.775G>T	ENSP00000482149.2:p.Ala259Ser
ENST00000345378.7:c.778G>T	ENSP00000223366.2:p.Ala260Ser
ENST00000403799.8:c.775G>T MANE Select	ENSP00000384247.3:p.Ala259Ser
ENST00000671824.1:c.775G>T	ENSP00000500264.1:p.Ala259Ser
ENST00000673284.1:c.775G>T	ENSP00000499852.1:p.Ala259Ser
ENST00000345378.6:c.778G>T	ENSP00000223366.2:p.Ala260Ser
ENST00000395796.7:c.772G>T	ENSP00000379142.3:p.Ala258Ser
ENST00000403799.7:c.775G>T	ENSP00000384247.3:p.Ala259Ser
ENST00000437084.1:c.724G>T	ENSP00000402840.1:p.Ala242Ser
ENST00000616242.4:c.772G>T	ENSP00000482149.1:p.Ala258Ser
NM_000162.3:c.775G>T	NP_000153.1:p.Ala259Ser
NM_033507.1:c.778G>T	NP_277042.1:p.Ala260Ser
NM_033508.1:c.772G>T	NP_277043.1:p.Ala258Ser
XR_927223.1:n.72C>A
NM_000162.4:c.775G>T	NP_000153.1:p.Ala259Ser
NM_001354800.1:c.775G>T	NP_001341729.1:p.Ala259Ser
NM_033507.2:c.778G>T	NP_277042.1:p.Ala260Ser
NM_033508.2:c.772G>T	NP_277043.1:p.Ala258Ser
XR_927223.2:n.72C>A
NM_000162.5:c.775G>T MANE Select	NP_000153.1:p.Ala259Ser
NM_033507.3:c.778G>T	NP_277042.1:p.Ala260Ser
NM_033508.3:c.772G>T	NP_277043.1:p.Ala258Ser