Canonical Allele Identifier: CA367403609
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44153412-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153412C>A , CM000669.2:g.44153412C>A GRCh38
NC_000007.13:g.44193011C>A , CM000669.1:g.44193011C>A GRCh37
NC_000007.12:g.44159536C>A NCBI36
NG_008847.1:g.41012G>T
NG_008847.2:g.49759G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*95G>T ENSP00000379142.4:n.*95G>T
ENST00000616242.5:c.97G>T ENSP00000482149.2:p.Val33Leu
ENST00000682635.1:n.583G>T
ENST00000345378.7:c.100G>T ENSP00000223366.2:p.Val34Leu
ENST00000403799.8:c.97G>T MANE Select ENSP00000384247.3:p.Val33Leu
ENST00000671824.1:c.97G>T ENSP00000500264.1:p.Val33Leu
ENST00000673284.1:c.97G>T ENSP00000499852.1:p.Val33Leu
ENST00000345378.6:c.100G>T ENSP00000223366.2:p.Val34Leu
ENST00000395796.7:c.94G>T ENSP00000379142.3:p.Val32Leu
ENST00000403799.7:c.97G>T ENSP00000384247.3:p.Val33Leu
ENST00000437084.1:c.97G>T ENSP00000402840.1:p.Val33Leu
ENST00000476008.1:n.532G>T
ENST00000616242.4:c.94G>T ENSP00000482149.1:p.Val32Leu
NM_000162.3:c.97G>T NP_000153.1:p.Val33Leu
NM_033507.1:c.100G>T NP_277042.1:p.Val34Leu
NM_033508.1:c.94G>T NP_277043.1:p.Val32Leu
NM_000162.4:c.97G>T NP_000153.1:p.Val33Leu
NM_001354800.1:c.97G>T NP_001341729.1:p.Val33Leu
NM_033507.2:c.100G>T NP_277042.1:p.Val34Leu
NM_033508.2:c.94G>T NP_277043.1:p.Val32Leu
NM_000162.5:c.97G>T MANE Select NP_000153.1:p.Val33Leu
NM_033507.3:c.100G>T NP_277042.1:p.Val34Leu
NM_033508.3:c.94G>T NP_277043.1:p.Val32Leu