Canonical Allele Identifier: CA367398219
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145504-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145504G>A , CM000669.2:g.44145504G>A GRCh38
NC_000007.13:g.44185103G>A , CM000669.1:g.44185103G>A GRCh37
NC_000007.12:g.44151628G>A NCBI36
NG_008847.1:g.48920C>T
NG_008847.2:g.57667C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1244C>T ENSP00000379142.4:n.*1244C>T
ENST00000616242.5:c.*366C>T ENSP00000482149.2:n.*366C>T
ENST00000683378.1:n.472C>T
ENST00000336642.9:c.280C>T ENSP00000338009.5:p.His94Tyr
ENST00000345378.7:c.1249C>T ENSP00000223366.2:p.His417Tyr
ENST00000403799.8:c.1246C>T MANE Select ENSP00000384247.3:p.His416Tyr
ENST00000671824.1:c.1309C>T ENSP00000500264.1:p.His437Tyr
ENST00000672743.1:n.258C>T
ENST00000673284.1:c.1246C>T ENSP00000499852.1:p.His416Tyr
ENST00000336642.8:c.298C>T ENSP00000338009.4:p.His100Tyr
ENST00000345378.6:c.1249C>T ENSP00000223366.2:p.His417Tyr
ENST00000395796.7:c.1243C>T ENSP00000379142.3:p.His415Tyr
ENST00000403799.7:c.1246C>T ENSP00000384247.3:p.His416Tyr
ENST00000437084.1:c.1195C>T ENSP00000402840.1:p.His399Tyr
ENST00000459642.1:n.626C>T
ENST00000616242.4:c.1243C>T ENSP00000482149.1:p.His415Tyr
NM_000162.3:c.1246C>T NP_000153.1:p.His416Tyr
NM_033507.1:c.1249C>T NP_277042.1:p.His417Tyr
NM_033508.1:c.1243C>T NP_277043.1:p.His415Tyr
NM_000162.4:c.1246C>T NP_000153.1:p.His416Tyr
NM_001354800.1:c.1246C>T NP_001341729.1:p.His416Tyr
NM_001354801.1:c.235C>T NP_001341730.1:p.His79Tyr
NM_001354802.1:c.106C>T NP_001341731.1:p.His36Tyr
NM_001354803.1:c.280C>T NP_001341732.1:p.His94Tyr
NM_033507.2:c.1249C>T NP_277042.1:p.His417Tyr
NM_033508.2:c.1243C>T NP_277043.1:p.His415Tyr
XM_024446707.1:c.106C>T XP_024302475.1:p.His36Tyr
NM_000162.5:c.1246C>T MANE Select NP_000153.1:p.His416Tyr
NM_033507.3:c.1249C>T NP_277042.1:p.His417Tyr
NM_033508.3:c.1243C>T NP_277043.1:p.His415Tyr
NM_001354803.2:c.280C>T NP_001341732.1:p.His94Tyr