Canonical Allele Identifier: CA367398737
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1256306
dbSNP Id: rs749298368

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145603A>G , CM000669.2:g.44145603A>G GRCh38
NC_000007.13:g.44185202A>G , CM000669.1:g.44185202A>G GRCh37
NC_000007.12:g.44151727A>G NCBI36
NG_008847.1:g.48821T>C
NG_008847.2:g.57568T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1145T>C ENSP00000379142.4:n.*1145T>C
ENST00000616242.5:c.*267T>C ENSP00000482149.2:n.*267T>C
ENST00000683378.1:n.373T>C
ENST00000336642.9:c.181T>C ENSP00000338009.5:p.Ser61Pro
ENST00000345378.7:c.1150T>C ENSP00000223366.2:p.Ser384Pro
ENST00000403799.8:c.1147T>C MANE Select ENSP00000384247.3:p.Ser383Pro
ENST00000671824.1:c.1210T>C ENSP00000500264.1:p.Ser404Pro
ENST00000672743.1:n.159T>C
ENST00000673284.1:c.1147T>C ENSP00000499852.1:p.Ser383Pro
ENST00000336642.8:c.199T>C ENSP00000338009.4:p.Ser67Pro
ENST00000345378.6:c.1150T>C ENSP00000223366.2:p.Ser384Pro
ENST00000395796.7:c.1144T>C ENSP00000379142.3:p.Ser382Pro
ENST00000403799.7:c.1147T>C ENSP00000384247.3:p.Ser383Pro
ENST00000437084.1:c.1096T>C ENSP00000402840.1:p.Ser366Pro
ENST00000459642.1:n.527T>C
ENST00000616242.4:c.1144T>C ENSP00000482149.1:p.Ser382Pro
NM_000162.3:c.1147T>C NP_000153.1:p.Ser383Pro
NM_033507.1:c.1150T>C NP_277042.1:p.Ser384Pro
NM_033508.1:c.1144T>C NP_277043.1:p.Ser382Pro
NM_000162.4:c.1147T>C NP_000153.1:p.Ser383Pro
NM_001354800.1:c.1147T>C NP_001341729.1:p.Ser383Pro
NM_001354801.1:c.136T>C NP_001341730.1:p.Ser46Pro
NM_001354802.1:c.7T>C NP_001341731.1:p.Ser3Pro
NM_001354803.1:c.181T>C NP_001341732.1:p.Ser61Pro
NM_033507.2:c.1150T>C NP_277042.1:p.Ser384Pro
NM_033508.2:c.1144T>C NP_277043.1:p.Ser382Pro
XM_024446707.1:c.7T>C XP_024302475.1:p.Ser3Pro
NM_000162.5:c.1147T>C MANE Select NP_000153.1:p.Ser383Pro
NM_033507.3:c.1150T>C NP_277042.1:p.Ser384Pro
NM_033508.3:c.1144T>C NP_277043.1:p.Ser382Pro
NM_001354803.2:c.181T>C NP_001341732.1:p.Ser61Pro