Canonical Allele Identifier: CA454863252
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1174670182
gnomAD v3: 7-44145616-A-T
gnomAD v4: 7-44145616-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145616A>T , CM000669.2:g.44145616A>T GRCh38
NC_000007.13:g.44185215A>T , CM000669.1:g.44185215A>T GRCh37
NC_000007.12:g.44151740A>T NCBI36
NG_008847.1:g.48808T>A
NG_008847.2:g.57555T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1132T>A ENSP00000379142.4:n.*1132T>A
ENST00000616242.5:c.*254T>A ENSP00000482149.2:n.*254T>A
ENST00000683378.1:n.360T>A
ENST00000336642.9:c.168T>A ENSP00000338009.5:p.Ala56=
ENST00000345378.7:c.1137T>A ENSP00000223366.2:p.Ala379=
ENST00000403799.8:c.1134T>A MANE Select ENSP00000384247.3:p.Ala378=
ENST00000671824.1:c.1197T>A ENSP00000500264.1:p.Ala399=
ENST00000672743.1:n.146T>A
ENST00000673284.1:c.1134T>A ENSP00000499852.1:p.Ala378=
ENST00000336642.8:c.186T>A ENSP00000338009.4:p.Ala62=
ENST00000345378.6:c.1137T>A ENSP00000223366.2:p.Ala379=
ENST00000395796.7:c.1131T>A ENSP00000379142.3:p.Ala377=
ENST00000403799.7:c.1134T>A ENSP00000384247.3:p.Ala378=
ENST00000437084.1:c.1083T>A ENSP00000402840.1:p.Ala361=
ENST00000459642.1:n.514T>A
ENST00000616242.4:c.1131T>A ENSP00000482149.1:p.Ala377=
NM_000162.3:c.1134T>A NP_000153.1:p.Ala378=
NM_033507.1:c.1137T>A NP_277042.1:p.Ala379=
NM_033508.1:c.1131T>A NP_277043.1:p.Ala377=
NM_000162.4:c.1134T>A NP_000153.1:p.Ala378=
NM_001354800.1:c.1134T>A NP_001341729.1:p.Ala378=
NM_001354801.1:c.123T>A NP_001341730.1:p.Ala41=
NM_001354802.1:c.-7T>A NP_001341731.1:n.-7T>A
NM_001354803.1:c.168T>A NP_001341732.1:p.Ala56=
NM_033507.2:c.1137T>A NP_277042.1:p.Ala379=
NM_033508.2:c.1131T>A NP_277043.1:p.Ala377=
XM_024446707.1:c.-7T>A XP_024302475.1:n.-7T>A
NM_000162.5:c.1134T>A MANE Select NP_000153.1:p.Ala378=
NM_033507.3:c.1137T>A NP_277042.1:p.Ala379=
NM_033508.3:c.1131T>A NP_277043.1:p.Ala377=
NM_001354803.2:c.168T>A NP_001341732.1:p.Ala56=