Canonical Allele Identifier: CA213814

Gene: GCK

Linked Data

• ClinVar Variation Id: 36236
• ClinVar RCV Id: RCV000029899 ; RCV002362597 ; RCV003318496
• dbSNP Id: rs193922313
• MyVariant Identifiers: chr7:g.44189408C>A (hg19) ; chr7:g.44149809C>A (hg38)
• ERepo: CA213814/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149809C>A , CM000669.2:g.44149809C>A	GRCh38
NC_000007.13:g.44189408C>A , CM000669.1:g.44189408C>A	GRCh37
NC_000007.12:g.44155933C>A	NCBI36
NG_008847.1:g.44615G>T
NG_008847.2:g.53362G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*628G>T	ENSP00000379142.4:n.*628G>T
ENST00000616242.5:c.630G>T	ENSP00000482149.2:p.Met210Ile
ENST00000682635.1:n.1116G>T
ENST00000345378.7:c.633G>T	ENSP00000223366.2:p.Met211Ile
ENST00000403799.8:c.630G>T MANE Select	ENSP00000384247.3:p.Met210Ile
ENST00000671824.1:c.630G>T	ENSP00000500264.1:p.Met210Ile
ENST00000673284.1:c.630G>T	ENSP00000499852.1:p.Met210Ile
ENST00000345378.6:c.633G>T	ENSP00000223366.2:p.Met211Ile
ENST00000395796.7:c.627G>T	ENSP00000379142.3:p.Met209Ile
ENST00000403799.7:c.630G>T	ENSP00000384247.3:p.Met210Ile
ENST00000437084.1:c.579G>T	ENSP00000402840.1:p.Met193Ile
ENST00000616242.4:c.627G>T	ENSP00000482149.1:p.Met209Ile
NM_000162.3:c.630G>T	NP_000153.1:p.Met210Ile
NM_033507.1:c.633G>T	NP_277042.1:p.Met211Ile
NM_033508.1:c.627G>T	NP_277043.1:p.Met209Ile
NM_000162.4:c.630G>T	NP_000153.1:p.Met210Ile
NM_001354800.1:c.630G>T	NP_001341729.1:p.Met210Ile
NM_033507.2:c.633G>T	NP_277042.1:p.Met211Ile
NM_033508.2:c.627G>T	NP_277043.1:p.Met209Ile
NM_000162.5:c.630G>T MANE Select	NP_000153.1:p.Met210Ile
NM_033507.3:c.633G>T	NP_277042.1:p.Met211Ile
NM_033508.3:c.627G>T	NP_277043.1:p.Met209Ile