Canonical Allele Identifier: CA367396875
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2734985
ClinVar RCV Id: RCV003555319

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145176G>C , CM000669.2:g.44145176G>C GRCh38
NC_000007.13:g.44184775G>C , CM000669.1:g.44184775G>C GRCh37
NC_000007.12:g.44151300G>C NCBI36
NG_008847.1:g.49248C>G
NG_008847.2:g.57995C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1356C>G ENSP00000379142.4:n.*1356C>G
ENST00000616242.5:c.*478C>G ENSP00000482149.2:n.*478C>G
ENST00000683378.1:n.584C>G
ENST00000336642.9:c.392C>G ENSP00000338009.5:p.Ser131Trp
ENST00000345378.7:c.1361C>G ENSP00000223366.2:p.Ser454Trp
ENST00000403799.8:c.1358C>G MANE Select ENSP00000384247.3:p.Ser453Trp
ENST00000671824.1:c.1421C>G ENSP00000500264.1:p.Ser474Trp
ENST00000672743.1:n.370C>G
ENST00000673284.1:c.1358C>G ENSP00000499852.1:p.Ser453Trp
ENST00000336642.8:c.410C>G ENSP00000338009.4:p.Ser137Trp
ENST00000345378.6:c.1361C>G ENSP00000223366.2:p.Ser454Trp
ENST00000395796.7:c.1355C>G ENSP00000379142.3:p.Ser452Trp
ENST00000403799.7:c.1358C>G ENSP00000384247.3:p.Ser453Trp
ENST00000437084.1:c.1307C>G ENSP00000402840.1:p.Ser436Trp
ENST00000459642.1:n.738C>G
ENST00000616242.4:c.1355C>G ENSP00000482149.1:p.Ser452Trp
NM_000162.3:c.1358C>G NP_000153.1:p.Ser453Trp
NM_033507.1:c.1361C>G NP_277042.1:p.Ser454Trp
NM_033508.1:c.1355C>G NP_277043.1:p.Ser452Trp
NM_000162.4:c.1358C>G NP_000153.1:p.Ser453Trp
NM_001354800.1:c.1358C>G NP_001341729.1:p.Ser453Trp
NM_001354801.1:c.347C>G NP_001341730.1:p.Ser116Trp
NM_001354802.1:c.218C>G NP_001341731.1:p.Ser73Trp
NM_001354803.1:c.392C>G NP_001341732.1:p.Ser131Trp
NM_033507.2:c.1361C>G NP_277042.1:p.Ser454Trp
NM_033508.2:c.1355C>G NP_277043.1:p.Ser452Trp
XM_024446707.1:c.218C>G XP_024302475.1:p.Ser73Trp
NM_000162.5:c.1358C>G MANE Select NP_000153.1:p.Ser453Trp
NM_033507.3:c.1361C>G NP_277042.1:p.Ser454Trp
NM_033508.3:c.1355C>G NP_277043.1:p.Ser452Trp
NM_001354803.2:c.392C>G NP_001341732.1:p.Ser131Trp