Canonical Allele Identifier: CA2682579457
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44144949-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44144949G>C , CM000669.2:g.44144949G>C GRCh38
NC_000007.13:g.44184548G>C , CM000669.1:g.44184548G>C GRCh37
NC_000007.12:g.44151073G>C NCBI36
NG_008847.1:g.49475C>G
NG_008847.2:g.58222C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1583C>G ENSP00000379142.4:n.*1583C>G
ENST00000616242.5:c.*705C>G ENSP00000482149.2:n.*705C>G
ENST00000683378.1:n.811C>G
ENST00000336642.9:c.*187C>G ENSP00000338009.5:n.*187C>G
ENST00000345378.7:c.*187C>G ENSP00000223366.2:n.*187C>G
ENST00000403799.8:c.*187C>G MANE Select ENSP00000384247.3:n.*187C>G
ENST00000671824.1:c.*187C>G ENSP00000500264.1:n.*187C>G
ENST00000672743.1:n.381+216C>G
ENST00000673284.1:c.1369+216C>G ENSP00000499852.1:n.1369+216C>G
ENST00000336642.8:c.637C>G ENSP00000338009.4:n.637C>G
ENST00000345378.6:c.*187C>G ENSP00000223366.2:n.*187C>G
ENST00000395796.7:c.*187C>G ENSP00000379142.3:n.*187C>G
ENST00000403799.7:c.*187C>G ENSP00000384247.3:n.*187C>G
ENST00000459642.1:n.965C>G
ENST00000616242.4:c.1582C>G ENSP00000482149.1:n.1582C>G
NM_000162.3:c.*187C>G NP_000153.1:n.*187C>G
NM_033507.1:c.*187C>G NP_277042.1:n.*187C>G
NM_033508.1:c.*187C>G NP_277043.1:n.*187C>G
NM_000162.4:c.*187C>G NP_000153.1:n.*187C>G
NM_001354800.1:c.1369+216C>G NP_001341729.1:n.1369+216C>G
NM_001354801.1:c.*187C>G NP_001341730.1:n.*187C>G
NM_001354802.1:c.229+216C>G NP_001341731.1:n.229+216C>G
NM_001354803.1:c.*187C>G NP_001341732.1:n.*187C>G
NM_033507.2:c.*187C>G NP_277042.1:n.*187C>G
NM_033508.2:c.*187C>G NP_277043.1:n.*187C>G
XM_024446707.1:c.*187C>G XP_024302475.1:n.*187C>G
NM_000162.5:c.*187C>G MANE Select NP_000153.1:n.*187C>G
NM_033507.3:c.*187C>G NP_277042.1:n.*187C>G
NM_033508.3:c.*187C>G NP_277043.1:n.*187C>G
NM_001354803.2:c.*187C>G NP_001341732.1:n.*187C>G
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