Canonical Allele Identifier: CA367399190
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145687-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145687G>T , CM000669.2:g.44145687G>T GRCh38
NC_000007.13:g.44185286G>T , CM000669.1:g.44185286G>T GRCh37
NC_000007.12:g.44151811G>T NCBI36
NG_008847.1:g.48737C>A
NG_008847.2:g.57484C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1061C>A ENSP00000379142.4:n.*1061C>A
ENST00000616242.5:c.*183C>A ENSP00000482149.2:n.*183C>A
ENST00000683378.1:n.289C>A
ENST00000336642.9:c.97C>A ENSP00000338009.5:p.Leu33Met
ENST00000345378.7:c.1066C>A ENSP00000223366.2:p.Leu356Met
ENST00000403799.8:c.1063C>A MANE Select ENSP00000384247.3:p.Leu355Met
ENST00000671824.1:c.1126C>A ENSP00000500264.1:p.Leu376Met
ENST00000672743.1:n.75C>A
ENST00000673284.1:c.1063C>A ENSP00000499852.1:p.Leu355Met
ENST00000336642.8:c.115C>A ENSP00000338009.4:p.Leu39Met
ENST00000345378.6:c.1066C>A ENSP00000223366.2:p.Leu356Met
ENST00000395796.7:c.1060C>A ENSP00000379142.3:p.Leu354Met
ENST00000403799.7:c.1063C>A ENSP00000384247.3:p.Leu355Met
ENST00000437084.1:c.1012C>A ENSP00000402840.1:p.Leu338Met
ENST00000459642.1:n.443C>A
ENST00000473353.1:n.361C>A
ENST00000616242.4:c.1060C>A ENSP00000482149.1:p.Leu354Met
NM_000162.3:c.1063C>A NP_000153.1:p.Leu355Met
NM_033507.1:c.1066C>A NP_277042.1:p.Leu356Met
NM_033508.1:c.1060C>A NP_277043.1:p.Leu354Met
NM_000162.4:c.1063C>A NP_000153.1:p.Leu355Met
NM_001354800.1:c.1063C>A NP_001341729.1:p.Leu355Met
NM_001354801.1:c.52C>A NP_001341730.1:p.Leu18Met
NM_001354802.1:c.-78C>A NP_001341731.1:n.-78C>A
NM_001354803.1:c.97C>A NP_001341732.1:p.Leu33Met
NM_033507.2:c.1066C>A NP_277042.1:p.Leu356Met
NM_033508.2:c.1060C>A NP_277043.1:p.Leu354Met
XM_024446707.1:c.-78C>A XP_024302475.1:n.-78C>A
NM_000162.5:c.1063C>A MANE Select NP_000153.1:p.Leu355Met
NM_033507.3:c.1066C>A NP_277042.1:p.Leu356Met
NM_033508.3:c.1060C>A NP_277043.1:p.Leu354Met
NM_001354803.2:c.97C>A NP_001341732.1:p.Leu33Met