Canonical Allele Identifier: CA454863092
Gene: GCK HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.44185295G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145696G>A , CM000669.2:g.44145696G>A GRCh38
NC_000007.13:g.44185295G>A , CM000669.1:g.44185295G>A GRCh37
NC_000007.12:g.44151820G>A NCBI36
NG_008847.1:g.48728C>T
NG_008847.2:g.57475C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1052C>T ENSP00000379142.4:n.*1052C>T
ENST00000616242.5:c.*174C>T ENSP00000482149.2:n.*174C>T
ENST00000683378.1:n.280C>T
ENST00000336642.9:c.88C>T ENSP00000338009.5:p.Leu30=
ENST00000345378.7:c.1057C>T ENSP00000223366.2:p.Leu353=
ENST00000403799.8:c.1054C>T MANE Select ENSP00000384247.3:p.Leu352=
ENST00000671824.1:c.1117C>T ENSP00000500264.1:p.Leu373=
ENST00000672743.1:n.66C>T
ENST00000673284.1:c.1054C>T ENSP00000499852.1:p.Leu352=
ENST00000336642.8:c.106C>T ENSP00000338009.4:p.Leu36=
ENST00000345378.6:c.1057C>T ENSP00000223366.2:p.Leu353=
ENST00000395796.7:c.1051C>T ENSP00000379142.3:p.Leu351=
ENST00000403799.7:c.1054C>T ENSP00000384247.3:p.Leu352=
ENST00000437084.1:c.1003C>T ENSP00000402840.1:p.Leu335=
ENST00000459642.1:n.434C>T
ENST00000473353.1:n.352C>T
ENST00000616242.4:c.1051C>T ENSP00000482149.1:p.Leu351=
NM_000162.3:c.1054C>T NP_000153.1:p.Leu352=
NM_033507.1:c.1057C>T NP_277042.1:p.Leu353=
NM_033508.1:c.1051C>T NP_277043.1:p.Leu351=
NM_000162.4:c.1054C>T NP_000153.1:p.Leu352=
NM_001354800.1:c.1054C>T NP_001341729.1:p.Leu352=
NM_001354801.1:c.43C>T NP_001341730.1:p.Leu15=
NM_001354802.1:c.-87C>T NP_001341731.1:n.-87C>T
NM_001354803.1:c.88C>T NP_001341732.1:p.Leu30=
NM_033507.2:c.1057C>T NP_277042.1:p.Leu353=
NM_033508.2:c.1051C>T NP_277043.1:p.Leu351=
XM_024446707.1:c.-87C>T XP_024302475.1:n.-87C>T
NM_000162.5:c.1054C>T MANE Select NP_000153.1:p.Leu352=
NM_033507.3:c.1057C>T NP_277042.1:p.Leu353=
NM_033508.3:c.1051C>T NP_277043.1:p.Leu351=
NM_001354803.2:c.88C>T NP_001341732.1:p.Leu30=