Canonical Allele Identifier: CA367398193
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1422583553
gnomAD v2: 7-44185096-C-T
gnomAD v4: 7-44145497-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145497C>T , CM000669.2:g.44145497C>T GRCh38
NC_000007.13:g.44185096C>T , CM000669.1:g.44185096C>T GRCh37
NC_000007.12:g.44151621C>T NCBI36
NG_008847.1:g.48927G>A
NG_008847.2:g.57674G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1251G>A ENSP00000379142.4:n.*1251G>A
ENST00000616242.5:c.*373G>A ENSP00000482149.2:n.*373G>A
ENST00000683378.1:n.479G>A
ENST00000336642.9:c.287G>A ENSP00000338009.5:p.Ser96Asn
ENST00000345378.7:c.1256G>A ENSP00000223366.2:p.Ser419Asn
ENST00000403799.8:c.1253G>A MANE Select ENSP00000384247.3:p.Ser418Asn
ENST00000671824.1:c.1316G>A ENSP00000500264.1:p.Ser439Asn
ENST00000672743.1:n.265G>A
ENST00000673284.1:c.1253G>A ENSP00000499852.1:p.Ser418Asn
ENST00000336642.8:c.305G>A ENSP00000338009.4:p.Ser102Asn
ENST00000345378.6:c.1256G>A ENSP00000223366.2:p.Ser419Asn
ENST00000395796.7:c.1250G>A ENSP00000379142.3:p.Ser417Asn
ENST00000403799.7:c.1253G>A ENSP00000384247.3:p.Ser418Asn
ENST00000437084.1:c.1202G>A ENSP00000402840.1:p.Ser401Asn
ENST00000459642.1:n.633G>A
ENST00000616242.4:c.1250G>A ENSP00000482149.1:p.Ser417Asn
NM_000162.3:c.1253G>A NP_000153.1:p.Ser418Asn
NM_033507.1:c.1256G>A NP_277042.1:p.Ser419Asn
NM_033508.1:c.1250G>A NP_277043.1:p.Ser417Asn
NM_000162.4:c.1253G>A NP_000153.1:p.Ser418Asn
NM_001354800.1:c.1253G>A NP_001341729.1:p.Ser418Asn
NM_001354801.1:c.242G>A NP_001341730.1:p.Ser81Asn
NM_001354802.1:c.113G>A NP_001341731.1:p.Ser38Asn
NM_001354803.1:c.287G>A NP_001341732.1:p.Ser96Asn
NM_033507.2:c.1256G>A NP_277042.1:p.Ser419Asn
NM_033508.2:c.1250G>A NP_277043.1:p.Ser417Asn
XM_024446707.1:c.113G>A XP_024302475.1:p.Ser38Asn
NM_000162.5:c.1253G>A MANE Select NP_000153.1:p.Ser418Asn
NM_033507.3:c.1256G>A NP_277042.1:p.Ser419Asn
NM_033508.3:c.1250G>A NP_277043.1:p.Ser417Asn
NM_001354803.2:c.287G>A NP_001341732.1:p.Ser96Asn