Canonical Allele Identifier: CA1100760258
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1396477396
gnomAD v3: 7-44149919-G-C
gnomAD v4: 7-44149919-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149919G>C , CM000669.2:g.44149919G>C GRCh38
NC_000007.13:g.44189518G>C , CM000669.1:g.44189518G>C GRCh37
NC_000007.12:g.44156043G>C NCBI36
NG_008847.1:g.44505C>G
NG_008847.2:g.53252C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*577+50C>G ENSP00000379142.4:n.*577+50C>G
ENST00000616242.5:c.579+50C>G ENSP00000482149.2:n.579+50C>G
ENST00000682635.1:n.1065+50C>G
ENST00000345378.7:c.582+50C>G ENSP00000223366.2:n.582+50C>G
ENST00000403799.8:c.579+50C>G MANE Select ENSP00000384247.3:n.579+50C>G
ENST00000671824.1:c.579+50C>G ENSP00000500264.1:n.579+50C>G
ENST00000673284.1:c.579+50C>G ENSP00000499852.1:n.579+50C>G
ENST00000345378.6:c.582+50C>G ENSP00000223366.2:n.582+50C>G
ENST00000395796.7:c.576+50C>G ENSP00000379142.3:n.576+50C>G
ENST00000403799.7:c.579+50C>G ENSP00000384247.3:n.579+50C>G
ENST00000437084.1:c.528+50C>G ENSP00000402840.1:n.528+50C>G
ENST00000616242.4:c.576+50C>G ENSP00000482149.1:n.576+50C>G
NM_000162.3:c.579+50C>G NP_000153.1:n.579+50C>G
NM_033507.1:c.582+50C>G NP_277042.1:n.582+50C>G
NM_033508.1:c.576+50C>G NP_277043.1:n.576+50C>G
NM_000162.4:c.579+50C>G NP_000153.1:n.579+50C>G
NM_001354800.1:c.579+50C>G NP_001341729.1:n.579+50C>G
NM_033507.2:c.582+50C>G NP_277042.1:n.582+50C>G
NM_033508.2:c.576+50C>G NP_277043.1:n.576+50C>G
NM_000162.5:c.579+50C>G MANE Select NP_000153.1:n.579+50C>G
NM_033507.3:c.582+50C>G NP_277042.1:n.582+50C>G
NM_033508.3:c.576+50C>G NP_277043.1:n.576+50C>G