Canonical Allele Identifier: CA367402178
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2096280167
gnomAD v3: 7-44151060-A-T
gnomAD v4: 7-44151060-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151060A>T , CM000669.2:g.44151060A>T GRCh38
NC_000007.13:g.44190659A>T , CM000669.1:g.44190659A>T GRCh37
NC_000007.12:g.44157184A>T NCBI36
NG_008847.1:g.43364T>A
NG_008847.2:g.52111T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*377T>A ENSP00000379142.4:n.*377T>A
ENST00000616242.5:c.379T>A ENSP00000482149.2:p.Ser127Thr
ENST00000682635.1:n.865T>A
ENST00000345378.7:c.382T>A ENSP00000223366.2:p.Ser128Thr
ENST00000403799.8:c.379T>A MANE Select ENSP00000384247.3:p.Ser127Thr
ENST00000671824.1:c.379T>A ENSP00000500264.1:p.Ser127Thr
ENST00000673284.1:c.379T>A ENSP00000499852.1:p.Ser127Thr
ENST00000345378.6:c.382T>A ENSP00000223366.2:p.Ser128Thr
ENST00000395796.7:c.376T>A ENSP00000379142.3:p.Ser126Thr
ENST00000403799.7:c.379T>A ENSP00000384247.3:p.Ser127Thr
ENST00000437084.1:c.364-36T>A ENSP00000402840.1:n.364-36T>A
ENST00000616242.4:c.376T>A ENSP00000482149.1:p.Ser126Thr
NM_000162.3:c.379T>A NP_000153.1:p.Ser127Thr
NM_033507.1:c.382T>A NP_277042.1:p.Ser128Thr
NM_033508.1:c.376T>A NP_277043.1:p.Ser126Thr
NM_000162.4:c.379T>A NP_000153.1:p.Ser127Thr
NM_001354800.1:c.379T>A NP_001341729.1:p.Ser127Thr
NM_033507.2:c.382T>A NP_277042.1:p.Ser128Thr
NM_033508.2:c.376T>A NP_277043.1:p.Ser126Thr
NM_000162.5:c.379T>A MANE Select NP_000153.1:p.Ser127Thr
NM_033507.3:c.382T>A NP_277042.1:p.Ser128Thr
NM_033508.3:c.376T>A NP_277043.1:p.Ser126Thr