Canonical Allele Identifier: CA367397248
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145264-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145264G>T , CM000669.2:g.44145264G>T GRCh38
NC_000007.13:g.44184863G>T , CM000669.1:g.44184863G>T GRCh37
NC_000007.12:g.44151388G>T NCBI36
NG_008847.1:g.49160C>A
NG_008847.2:g.57907C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1268C>A ENSP00000379142.4:n.*1268C>A
ENST00000616242.5:c.*390C>A ENSP00000482149.2:n.*390C>A
ENST00000683378.1:n.496C>A
ENST00000336642.9:c.304C>A ENSP00000338009.5:p.His102Asn
ENST00000345378.7:c.1273C>A ENSP00000223366.2:p.His425Asn
ENST00000403799.8:c.1270C>A MANE Select ENSP00000384247.3:p.His424Asn
ENST00000671824.1:c.1333C>A ENSP00000500264.1:p.His445Asn
ENST00000672743.1:n.282C>A
ENST00000673284.1:c.1270C>A ENSP00000499852.1:p.His424Asn
ENST00000336642.8:c.322C>A ENSP00000338009.4:p.His108Asn
ENST00000345378.6:c.1273C>A ENSP00000223366.2:p.His425Asn
ENST00000395796.7:c.1267C>A ENSP00000379142.3:p.His423Asn
ENST00000403799.7:c.1270C>A ENSP00000384247.3:p.His424Asn
ENST00000437084.1:c.1219C>A ENSP00000402840.1:p.His407Asn
ENST00000459642.1:n.650C>A
ENST00000616242.4:c.1267C>A ENSP00000482149.1:p.His423Asn
NM_000162.3:c.1270C>A NP_000153.1:p.His424Asn
NM_033507.1:c.1273C>A NP_277042.1:p.His425Asn
NM_033508.1:c.1267C>A NP_277043.1:p.His423Asn
NM_000162.4:c.1270C>A NP_000153.1:p.His424Asn
NM_001354800.1:c.1270C>A NP_001341729.1:p.His424Asn
NM_001354801.1:c.259C>A NP_001341730.1:p.His87Asn
NM_001354802.1:c.130C>A NP_001341731.1:p.His44Asn
NM_001354803.1:c.304C>A NP_001341732.1:p.His102Asn
NM_033507.2:c.1273C>A NP_277042.1:p.His425Asn
NM_033508.2:c.1267C>A NP_277043.1:p.His423Asn
XM_024446707.1:c.130C>A XP_024302475.1:p.His44Asn
NM_000162.5:c.1270C>A MANE Select NP_000153.1:p.His424Asn
NM_033507.3:c.1273C>A NP_277042.1:p.His425Asn
NM_033508.3:c.1267C>A NP_277043.1:p.His423Asn
NM_001354803.2:c.304C>A NP_001341732.1:p.His102Asn