Canonical Allele Identifier: CA367398222
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145504-G-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1244C>A ENSP00000379142.4:n.*1244C>A
ENST00000616242.5:c.*366C>A ENSP00000482149.2:n.*366C>A
ENST00000683378.1:n.472C>A
ENST00000336642.9:c.280C>A ENSP00000338009.5:p.His94Asn
ENST00000345378.7:c.1249C>A ENSP00000223366.2:p.His417Asn
ENST00000403799.8:c.1246C>A MANE Select ENSP00000384247.3:p.His416Asn
ENST00000671824.1:c.1309C>A ENSP00000500264.1:p.His437Asn
ENST00000672743.1:n.258C>A
ENST00000673284.1:c.1246C>A ENSP00000499852.1:p.His416Asn
ENST00000336642.8:c.298C>A ENSP00000338009.4:p.His100Asn
ENST00000345378.6:c.1249C>A ENSP00000223366.2:p.His417Asn
ENST00000395796.7:c.1243C>A ENSP00000379142.3:p.His415Asn
ENST00000403799.7:c.1246C>A ENSP00000384247.3:p.His416Asn
ENST00000437084.1:c.1195C>A ENSP00000402840.1:p.His399Asn
ENST00000459642.1:n.626C>A
ENST00000616242.4:c.1243C>A ENSP00000482149.1:p.His415Asn
NM_000162.3:c.1246C>A NP_000153.1:p.His416Asn
NM_033507.1:c.1249C>A NP_277042.1:p.His417Asn
NM_033508.1:c.1243C>A NP_277043.1:p.His415Asn
NM_000162.4:c.1246C>A NP_000153.1:p.His416Asn
NM_001354800.1:c.1246C>A NP_001341729.1:p.His416Asn
NM_001354801.1:c.235C>A NP_001341730.1:p.His79Asn
NM_001354802.1:c.106C>A NP_001341731.1:p.His36Asn
NM_001354803.1:c.280C>A NP_001341732.1:p.His94Asn
NM_033507.2:c.1249C>A NP_277042.1:p.His417Asn
NM_033508.2:c.1243C>A NP_277043.1:p.His415Asn
XM_024446707.1:c.106C>A XP_024302475.1:p.His36Asn
NM_000162.5:c.1246C>A MANE Select NP_000153.1:p.His416Asn
NM_033507.3:c.1249C>A NP_277042.1:p.His417Asn
NM_033508.3:c.1243C>A NP_277043.1:p.His415Asn
NM_001354803.2:c.280C>A NP_001341732.1:p.His94Asn