Canonical Allele Identifier: CA367401527
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149976C>A , CM000669.2:g.44149976C>A GRCh38
NC_000007.13:g.44189575C>A , CM000669.1:g.44189575C>A GRCh37
NC_000007.12:g.44156100C>A NCBI36
NG_008847.1:g.44448G>T
NG_008847.2:g.53195G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*570G>T ENSP00000379142.4:n.*570G>T
ENST00000616242.5:c.572G>T ENSP00000482149.2:p.Arg191Leu
ENST00000682635.1:n.1058G>T
ENST00000345378.7:c.575G>T ENSP00000223366.2:p.Arg192Leu
ENST00000403799.8:c.572G>T MANE Select ENSP00000384247.3:p.Arg191Leu
ENST00000671824.1:c.572G>T ENSP00000500264.1:p.Arg191Leu
ENST00000673284.1:c.572G>T ENSP00000499852.1:p.Arg191Leu
ENST00000345378.6:c.575G>T ENSP00000223366.2:p.Arg192Leu
ENST00000395796.7:c.569G>T ENSP00000379142.3:p.Arg190Leu
ENST00000403799.7:c.572G>T ENSP00000384247.3:p.Arg191Leu
ENST00000437084.1:c.521G>T ENSP00000402840.1:p.Arg174Leu
ENST00000616242.4:c.569G>T ENSP00000482149.1:p.Arg190Leu
NM_000162.3:c.572G>T NP_000153.1:p.Arg191Leu
NM_033507.1:c.575G>T NP_277042.1:p.Arg192Leu
NM_033508.1:c.569G>T NP_277043.1:p.Arg190Leu
NM_000162.4:c.572G>T NP_000153.1:p.Arg191Leu
NM_001354800.1:c.572G>T NP_001341729.1:p.Arg191Leu
NM_033507.2:c.575G>T NP_277042.1:p.Arg192Leu
NM_033508.2:c.569G>T NP_277043.1:p.Arg190Leu
NM_000162.5:c.572G>T MANE Select NP_000153.1:p.Arg191Leu
NM_033507.3:c.575G>T NP_277042.1:p.Arg192Leu
NM_033508.3:c.569G>T NP_277043.1:p.Arg190Leu