Canonical Allele Identifier: CA2682579984
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145058-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145058A>G , CM000669.2:g.44145058A>G GRCh38
NC_000007.13:g.44184657A>G , CM000669.1:g.44184657A>G GRCh37
NC_000007.12:g.44151182A>G NCBI36
NG_008847.1:g.49366T>C
NG_008847.2:g.58113T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1474T>C ENSP00000379142.4:n.*1474T>C
ENST00000616242.5:c.*596T>C ENSP00000482149.2:n.*596T>C
ENST00000683378.1:n.702T>C
ENST00000336642.9:c.*78T>C ENSP00000338009.5:n.*78T>C
ENST00000345378.7:c.*78T>C ENSP00000223366.2:n.*78T>C
ENST00000403799.8:c.*78T>C MANE Select ENSP00000384247.3:n.*78T>C
ENST00000671824.1:c.*78T>C ENSP00000500264.1:n.*78T>C
ENST00000672743.1:n.381+107T>C
ENST00000673284.1:c.1369+107T>C ENSP00000499852.1:n.1369+107T>C
ENST00000336642.8:c.528T>C ENSP00000338009.4:n.528T>C
ENST00000345378.6:c.*78T>C ENSP00000223366.2:n.*78T>C
ENST00000395796.7:c.*78T>C ENSP00000379142.3:n.*78T>C
ENST00000403799.7:c.*78T>C ENSP00000384247.3:n.*78T>C
ENST00000459642.1:n.856T>C
ENST00000616242.4:c.1473T>C ENSP00000482149.1:n.1473T>C
NM_000162.3:c.*78T>C NP_000153.1:n.*78T>C
NM_033507.1:c.*78T>C NP_277042.1:n.*78T>C
NM_033508.1:c.*78T>C NP_277043.1:n.*78T>C
NM_000162.4:c.*78T>C NP_000153.1:n.*78T>C
NM_001354800.1:c.1369+107T>C NP_001341729.1:n.1369+107T>C
NM_001354801.1:c.*78T>C NP_001341730.1:n.*78T>C
NM_001354802.1:c.229+107T>C NP_001341731.1:n.229+107T>C
NM_001354803.1:c.*78T>C NP_001341732.1:n.*78T>C
NM_033507.2:c.*78T>C NP_277042.1:n.*78T>C
NM_033508.2:c.*78T>C NP_277043.1:n.*78T>C
XM_024446707.1:c.*78T>C XP_024302475.1:n.*78T>C
NM_000162.5:c.*78T>C MANE Select NP_000153.1:n.*78T>C
NM_033507.3:c.*78T>C NP_277042.1:n.*78T>C
NM_033508.3:c.*78T>C NP_277043.1:n.*78T>C
NM_001354803.2:c.*78T>C NP_001341732.1:n.*78T>C
Search 100 bp 5'
Search 100 bp 3'