Canonical Allele Identifier: CA367396889
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145180C>A , CM000669.2:g.44145180C>A GRCh38
NC_000007.13:g.44184779C>A , CM000669.1:g.44184779C>A GRCh37
NC_000007.12:g.44151304C>A NCBI36
NG_008847.1:g.49244G>T
NG_008847.2:g.57991G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1352G>T ENSP00000379142.4:n.*1352G>T
ENST00000616242.5:c.*474G>T ENSP00000482149.2:n.*474G>T
ENST00000683378.1:n.580G>T
ENST00000336642.9:c.388G>T ENSP00000338009.5:p.Val130Phe
ENST00000345378.7:c.1357G>T ENSP00000223366.2:p.Val453Phe
ENST00000403799.8:c.1354G>T MANE Select ENSP00000384247.3:p.Val452Phe
ENST00000671824.1:c.1417G>T ENSP00000500264.1:p.Val473Phe
ENST00000672743.1:n.366G>T
ENST00000673284.1:c.1354G>T ENSP00000499852.1:p.Val452Phe
ENST00000336642.8:c.406G>T ENSP00000338009.4:p.Val136Phe
ENST00000345378.6:c.1357G>T ENSP00000223366.2:p.Val453Phe
ENST00000395796.7:c.1351G>T ENSP00000379142.3:p.Val451Phe
ENST00000403799.7:c.1354G>T ENSP00000384247.3:p.Val452Phe
ENST00000437084.1:c.1303G>T ENSP00000402840.1:p.Val435Phe
ENST00000459642.1:n.734G>T
ENST00000616242.4:c.1351G>T ENSP00000482149.1:p.Val451Phe
NM_000162.3:c.1354G>T NP_000153.1:p.Val452Phe
NM_033507.1:c.1357G>T NP_277042.1:p.Val453Phe
NM_033508.1:c.1351G>T NP_277043.1:p.Val451Phe
NM_000162.4:c.1354G>T NP_000153.1:p.Val452Phe
NM_001354800.1:c.1354G>T NP_001341729.1:p.Val452Phe
NM_001354801.1:c.343G>T NP_001341730.1:p.Val115Phe
NM_001354802.1:c.214G>T NP_001341731.1:p.Val72Phe
NM_001354803.1:c.388G>T NP_001341732.1:p.Val130Phe
NM_033507.2:c.1357G>T NP_277042.1:p.Val453Phe
NM_033508.2:c.1351G>T NP_277043.1:p.Val451Phe
XM_024446707.1:c.214G>T XP_024302475.1:p.Val72Phe
NM_000162.5:c.1354G>T MANE Select NP_000153.1:p.Val452Phe
NM_033507.3:c.1357G>T NP_277042.1:p.Val453Phe
NM_033508.3:c.1351G>T NP_277043.1:p.Val451Phe
NM_001354803.2:c.388G>T NP_001341732.1:p.Val130Phe