Canonical Allele Identifier: CA367398708
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145594-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145594G>T , CM000669.2:g.44145594G>T GRCh38
NC_000007.13:g.44185193G>T , CM000669.1:g.44185193G>T GRCh37
NC_000007.12:g.44151718G>T NCBI36
NG_008847.1:g.48830C>A
NG_008847.2:g.57577C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1154C>A ENSP00000379142.4:n.*1154C>A
ENST00000616242.5:c.*276C>A ENSP00000482149.2:n.*276C>A
ENST00000683378.1:n.382C>A
ENST00000336642.9:c.190C>A ENSP00000338009.5:p.Leu64Met
ENST00000345378.7:c.1159C>A ENSP00000223366.2:p.Leu387Met
ENST00000403799.8:c.1156C>A MANE Select ENSP00000384247.3:p.Leu386Met
ENST00000671824.1:c.1219C>A ENSP00000500264.1:p.Leu407Met
ENST00000672743.1:n.168C>A
ENST00000673284.1:c.1156C>A ENSP00000499852.1:p.Leu386Met
ENST00000336642.8:c.208C>A ENSP00000338009.4:p.Leu70Met
ENST00000345378.6:c.1159C>A ENSP00000223366.2:p.Leu387Met
ENST00000395796.7:c.1153C>A ENSP00000379142.3:p.Leu385Met
ENST00000403799.7:c.1156C>A ENSP00000384247.3:p.Leu386Met
ENST00000437084.1:c.1105C>A ENSP00000402840.1:p.Leu369Met
ENST00000459642.1:n.536C>A
ENST00000616242.4:c.1153C>A ENSP00000482149.1:p.Leu385Met
NM_000162.3:c.1156C>A NP_000153.1:p.Leu386Met
NM_033507.1:c.1159C>A NP_277042.1:p.Leu387Met
NM_033508.1:c.1153C>A NP_277043.1:p.Leu385Met
NM_000162.4:c.1156C>A NP_000153.1:p.Leu386Met
NM_001354800.1:c.1156C>A NP_001341729.1:p.Leu386Met
NM_001354801.1:c.145C>A NP_001341730.1:p.Leu49Met
NM_001354802.1:c.16C>A NP_001341731.1:p.Leu6Met
NM_001354803.1:c.190C>A NP_001341732.1:p.Leu64Met
NM_033507.2:c.1159C>A NP_277042.1:p.Leu387Met
NM_033508.2:c.1153C>A NP_277043.1:p.Leu385Met
XM_024446707.1:c.16C>A XP_024302475.1:p.Leu6Met
NM_000162.5:c.1156C>A MANE Select NP_000153.1:p.Leu386Met
NM_033507.3:c.1159C>A NP_277042.1:p.Leu387Met
NM_033508.3:c.1153C>A NP_277043.1:p.Leu385Met
NM_001354803.2:c.190C>A NP_001341732.1:p.Leu64Met