Canonical Allele Identifier: CA367400581
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44147737-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147737G>C , CM000669.2:g.44147737G>C GRCh38
NC_000007.13:g.44187336G>C , CM000669.1:g.44187336G>C GRCh37
NC_000007.12:g.44153861G>C NCBI36
NG_008847.1:g.46687C>G
NG_008847.2:g.55434C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*774C>G ENSP00000379142.4:n.*774C>G
ENST00000616242.5:c.776C>G ENSP00000482149.2:p.Ala259Gly
ENST00000345378.7:c.779C>G ENSP00000223366.2:p.Ala260Gly
ENST00000403799.8:c.776C>G MANE Select ENSP00000384247.3:p.Ala259Gly
ENST00000671824.1:c.776C>G ENSP00000500264.1:p.Ala259Gly
ENST00000673284.1:c.776C>G ENSP00000499852.1:p.Ala259Gly
ENST00000345378.6:c.779C>G ENSP00000223366.2:p.Ala260Gly
ENST00000395796.7:c.773C>G ENSP00000379142.3:p.Ala258Gly
ENST00000403799.7:c.776C>G ENSP00000384247.3:p.Ala259Gly
ENST00000437084.1:c.725C>G ENSP00000402840.1:p.Ala242Gly
ENST00000616242.4:c.773C>G ENSP00000482149.1:p.Ala258Gly
NM_000162.3:c.776C>G NP_000153.1:p.Ala259Gly
NM_033507.1:c.779C>G NP_277042.1:p.Ala260Gly
NM_033508.1:c.773C>G NP_277043.1:p.Ala258Gly
XR_927223.1:n.71G>C
NM_000162.4:c.776C>G NP_000153.1:p.Ala259Gly
NM_001354800.1:c.776C>G NP_001341729.1:p.Ala259Gly
NM_033507.2:c.779C>G NP_277042.1:p.Ala260Gly
NM_033508.2:c.773C>G NP_277043.1:p.Ala258Gly
XR_927223.2:n.71G>C
NM_000162.5:c.776C>G MANE Select NP_000153.1:p.Ala259Gly
NM_033507.3:c.779C>G NP_277042.1:p.Ala260Gly
NM_033508.3:c.773C>G NP_277043.1:p.Ala258Gly