Canonical Allele Identifier: CA367399230
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145695-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145695A>G , CM000669.2:g.44145695A>G GRCh38
NC_000007.13:g.44185294A>G , CM000669.1:g.44185294A>G GRCh37
NC_000007.12:g.44151819A>G NCBI36
NG_008847.1:g.48729T>C
NG_008847.2:g.57476T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1053T>C ENSP00000379142.4:n.*1053T>C
ENST00000616242.5:c.*175T>C ENSP00000482149.2:n.*175T>C
ENST00000683378.1:n.281T>C
ENST00000336642.9:c.89T>C ENSP00000338009.5:p.Leu30Pro
ENST00000345378.7:c.1058T>C ENSP00000223366.2:p.Leu353Pro
ENST00000403799.8:c.1055T>C MANE Select ENSP00000384247.3:p.Leu352Pro
ENST00000671824.1:c.1118T>C ENSP00000500264.1:p.Leu373Pro
ENST00000672743.1:n.67T>C
ENST00000673284.1:c.1055T>C ENSP00000499852.1:p.Leu352Pro
ENST00000336642.8:c.107T>C ENSP00000338009.4:p.Leu36Pro
ENST00000345378.6:c.1058T>C ENSP00000223366.2:p.Leu353Pro
ENST00000395796.7:c.1052T>C ENSP00000379142.3:p.Leu351Pro
ENST00000403799.7:c.1055T>C ENSP00000384247.3:p.Leu352Pro
ENST00000437084.1:c.1004T>C ENSP00000402840.1:p.Leu335Pro
ENST00000459642.1:n.435T>C
ENST00000473353.1:n.353T>C
ENST00000616242.4:c.1052T>C ENSP00000482149.1:p.Leu351Pro
NM_000162.3:c.1055T>C NP_000153.1:p.Leu352Pro
NM_033507.1:c.1058T>C NP_277042.1:p.Leu353Pro
NM_033508.1:c.1052T>C NP_277043.1:p.Leu351Pro
NM_000162.4:c.1055T>C NP_000153.1:p.Leu352Pro
NM_001354800.1:c.1055T>C NP_001341729.1:p.Leu352Pro
NM_001354801.1:c.44T>C NP_001341730.1:p.Leu15Pro
NM_001354802.1:c.-86T>C NP_001341731.1:n.-86T>C
NM_001354803.1:c.89T>C NP_001341732.1:p.Leu30Pro
NM_033507.2:c.1058T>C NP_277042.1:p.Leu353Pro
NM_033508.2:c.1052T>C NP_277043.1:p.Leu351Pro
XM_024446707.1:c.-86T>C XP_024302475.1:n.-86T>C
NM_000162.5:c.1055T>C MANE Select NP_000153.1:p.Leu352Pro
NM_033507.3:c.1058T>C NP_277042.1:p.Leu353Pro
NM_033508.3:c.1052T>C NP_277043.1:p.Leu351Pro
NM_001354803.2:c.89T>C NP_001341732.1:p.Leu30Pro