Canonical Allele Identifier: CA367399277
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145704T>A , CM000669.2:g.44145704T>A GRCh38
NC_000007.13:g.44185303T>A , CM000669.1:g.44185303T>A GRCh37
NC_000007.12:g.44151828T>A NCBI36
NG_008847.1:g.48720A>T
NG_008847.2:g.57467A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1044A>T ENSP00000379142.4:n.*1044A>T
ENST00000616242.5:c.*166A>T ENSP00000482149.2:n.*166A>T
ENST00000683378.1:n.272A>T
ENST00000336642.9:c.80A>T ENSP00000338009.5:p.Tyr27Phe
ENST00000345378.7:c.1049A>T ENSP00000223366.2:p.Tyr350Phe
ENST00000403799.8:c.1046A>T MANE Select ENSP00000384247.3:p.Tyr349Phe
ENST00000671824.1:c.1109A>T ENSP00000500264.1:p.Tyr370Phe
ENST00000672743.1:n.58A>T
ENST00000673284.1:c.1046A>T ENSP00000499852.1:p.Tyr349Phe
ENST00000336642.8:c.98A>T ENSP00000338009.4:p.Tyr33Phe
ENST00000345378.6:c.1049A>T ENSP00000223366.2:p.Tyr350Phe
ENST00000395796.7:c.1043A>T ENSP00000379142.3:p.Tyr348Phe
ENST00000403799.7:c.1046A>T ENSP00000384247.3:p.Tyr349Phe
ENST00000437084.1:c.995A>T ENSP00000402840.1:p.Tyr332Phe
ENST00000459642.1:n.426A>T
ENST00000473353.1:n.344A>T
ENST00000616242.4:c.1043A>T ENSP00000482149.1:p.Tyr348Phe
NM_000162.3:c.1046A>T NP_000153.1:p.Tyr349Phe
NM_033507.1:c.1049A>T NP_277042.1:p.Tyr350Phe
NM_033508.1:c.1043A>T NP_277043.1:p.Tyr348Phe
NM_000162.4:c.1046A>T NP_000153.1:p.Tyr349Phe
NM_001354800.1:c.1046A>T NP_001341729.1:p.Tyr349Phe
NM_001354801.1:c.35A>T NP_001341730.1:p.Tyr12Phe
NM_001354802.1:c.-95A>T NP_001341731.1:n.-95A>T
NM_001354803.1:c.80A>T NP_001341732.1:p.Tyr27Phe
NM_033507.2:c.1049A>T NP_277042.1:p.Tyr350Phe
NM_033508.2:c.1043A>T NP_277043.1:p.Tyr348Phe
XM_024446707.1:c.-95A>T XP_024302475.1:n.-95A>T
NM_000162.5:c.1046A>T MANE Select NP_000153.1:p.Tyr349Phe
NM_033507.3:c.1049A>T NP_277042.1:p.Tyr350Phe
NM_033508.3:c.1043A>T NP_277043.1:p.Tyr348Phe
NM_001354803.2:c.80A>T NP_001341732.1:p.Tyr27Phe