Canonical Allele Identifier: CA367399131
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1212932079
gnomAD v2: 7-44185274-G-A
gnomAD v4: 7-44145675-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145675G>A , CM000669.2:g.44145675G>A GRCh38
NC_000007.13:g.44185274G>A , CM000669.1:g.44185274G>A GRCh37
NC_000007.12:g.44151799G>A NCBI36
NG_008847.1:g.48749C>T
NG_008847.2:g.57496C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1073C>T ENSP00000379142.4:n.*1073C>T
ENST00000616242.5:c.*195C>T ENSP00000482149.2:n.*195C>T
ENST00000683378.1:n.301C>T
ENST00000336642.9:c.109C>T ENSP00000338009.5:p.Pro37Ser
ENST00000345378.7:c.1078C>T ENSP00000223366.2:p.Pro360Ser
ENST00000403799.8:c.1075C>T MANE Select ENSP00000384247.3:p.Pro359Ser
ENST00000671824.1:c.1138C>T ENSP00000500264.1:p.Pro380Ser
ENST00000672743.1:n.87C>T
ENST00000673284.1:c.1075C>T ENSP00000499852.1:p.Pro359Ser
ENST00000336642.8:c.127C>T ENSP00000338009.4:p.Pro43Ser
ENST00000345378.6:c.1078C>T ENSP00000223366.2:p.Pro360Ser
ENST00000395796.7:c.1072C>T ENSP00000379142.3:p.Pro358Ser
ENST00000403799.7:c.1075C>T ENSP00000384247.3:p.Pro359Ser
ENST00000437084.1:c.1024C>T ENSP00000402840.1:p.Pro342Ser
ENST00000459642.1:n.455C>T
ENST00000473353.1:n.373C>T
ENST00000616242.4:c.1072C>T ENSP00000482149.1:p.Pro358Ser
NM_000162.3:c.1075C>T NP_000153.1:p.Pro359Ser
NM_033507.1:c.1078C>T NP_277042.1:p.Pro360Ser
NM_033508.1:c.1072C>T NP_277043.1:p.Pro358Ser
NM_000162.4:c.1075C>T NP_000153.1:p.Pro359Ser
NM_001354800.1:c.1075C>T NP_001341729.1:p.Pro359Ser
NM_001354801.1:c.64C>T NP_001341730.1:p.Pro22Ser
NM_001354802.1:c.-66C>T NP_001341731.1:n.-66C>T
NM_001354803.1:c.109C>T NP_001341732.1:p.Pro37Ser
NM_033507.2:c.1078C>T NP_277042.1:p.Pro360Ser
NM_033508.2:c.1072C>T NP_277043.1:p.Pro358Ser
XM_024446707.1:c.-66C>T XP_024302475.1:n.-66C>T
NM_000162.5:c.1075C>T MANE Select NP_000153.1:p.Pro359Ser
NM_033507.3:c.1078C>T NP_277042.1:p.Pro360Ser
NM_033508.3:c.1072C>T NP_277043.1:p.Pro358Ser
NM_001354803.2:c.109C>T NP_001341732.1:p.Pro37Ser