Canonical Allele Identifier: CA367402027
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151017T>A , CM000669.2:g.44151017T>A GRCh38
NC_000007.13:g.44190616T>A , CM000669.1:g.44190616T>A GRCh37
NC_000007.12:g.44157141T>A NCBI36
NG_008847.1:g.43407A>T
NG_008847.2:g.52154A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*420A>T ENSP00000379142.4:n.*420A>T
ENST00000616242.5:c.422A>T ENSP00000482149.2:p.His141Leu
ENST00000682635.1:n.908A>T
ENST00000345378.7:c.425A>T ENSP00000223366.2:p.His142Leu
ENST00000403799.8:c.422A>T MANE Select ENSP00000384247.3:p.His141Leu
ENST00000671824.1:c.422A>T ENSP00000500264.1:p.His141Leu
ENST00000673284.1:c.422A>T ENSP00000499852.1:p.His141Leu
ENST00000345378.6:c.425A>T ENSP00000223366.2:p.His142Leu
ENST00000395796.7:c.419A>T ENSP00000379142.3:p.His140Leu
ENST00000403799.7:c.422A>T ENSP00000384247.3:p.His141Leu
ENST00000437084.1:c.371A>T ENSP00000402840.1:p.His124Leu
ENST00000616242.4:c.419A>T ENSP00000482149.1:p.His140Leu
NM_000162.3:c.422A>T NP_000153.1:p.His141Leu
NM_033507.1:c.425A>T NP_277042.1:p.His142Leu
NM_033508.1:c.419A>T NP_277043.1:p.His140Leu
NM_000162.4:c.422A>T NP_000153.1:p.His141Leu
NM_001354800.1:c.422A>T NP_001341729.1:p.His141Leu
NM_033507.2:c.425A>T NP_277042.1:p.His142Leu
NM_033508.2:c.419A>T NP_277043.1:p.His140Leu
NM_000162.5:c.422A>T MANE Select NP_000153.1:p.His141Leu
NM_033507.3:c.425A>T NP_277042.1:p.His142Leu
NM_033508.3:c.419A>T NP_277043.1:p.His140Leu