Canonical Allele Identifier: CA367398215
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145503T>A , CM000669.2:g.44145503T>A GRCh38
NC_000007.13:g.44185102T>A , CM000669.1:g.44185102T>A GRCh37
NC_000007.12:g.44151627T>A NCBI36
NG_008847.1:g.48921A>T
NG_008847.2:g.57668A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1245A>T ENSP00000379142.4:n.*1245A>T
ENST00000616242.5:c.*367A>T ENSP00000482149.2:n.*367A>T
ENST00000683378.1:n.473A>T
ENST00000336642.9:c.281A>T ENSP00000338009.5:p.His94Leu
ENST00000345378.7:c.1250A>T ENSP00000223366.2:p.His417Leu
ENST00000403799.8:c.1247A>T MANE Select ENSP00000384247.3:p.His416Leu
ENST00000671824.1:c.1310A>T ENSP00000500264.1:p.His437Leu
ENST00000672743.1:n.259A>T
ENST00000673284.1:c.1247A>T ENSP00000499852.1:p.His416Leu
ENST00000336642.8:c.299A>T ENSP00000338009.4:p.His100Leu
ENST00000345378.6:c.1250A>T ENSP00000223366.2:p.His417Leu
ENST00000395796.7:c.1244A>T ENSP00000379142.3:p.His415Leu
ENST00000403799.7:c.1247A>T ENSP00000384247.3:p.His416Leu
ENST00000437084.1:c.1196A>T ENSP00000402840.1:p.His399Leu
ENST00000459642.1:n.627A>T
ENST00000616242.4:c.1244A>T ENSP00000482149.1:p.His415Leu
NM_000162.3:c.1247A>T NP_000153.1:p.His416Leu
NM_033507.1:c.1250A>T NP_277042.1:p.His417Leu
NM_033508.1:c.1244A>T NP_277043.1:p.His415Leu
NM_000162.4:c.1247A>T NP_000153.1:p.His416Leu
NM_001354800.1:c.1247A>T NP_001341729.1:p.His416Leu
NM_001354801.1:c.236A>T NP_001341730.1:p.His79Leu
NM_001354802.1:c.107A>T NP_001341731.1:p.His36Leu
NM_001354803.1:c.281A>T NP_001341732.1:p.His94Leu
NM_033507.2:c.1250A>T NP_277042.1:p.His417Leu
NM_033508.2:c.1244A>T NP_277043.1:p.His415Leu
XM_024446707.1:c.107A>T XP_024302475.1:p.His36Leu
NM_000162.5:c.1247A>T MANE Select NP_000153.1:p.His416Leu
NM_033507.3:c.1250A>T NP_277042.1:p.His417Leu
NM_033508.3:c.1244A>T NP_277043.1:p.His415Leu
NM_001354803.2:c.281A>T NP_001341732.1:p.His94Leu