Canonical Allele Identifier: CA367398195
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145498-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145498T>A , CM000669.2:g.44145498T>A GRCh38
NC_000007.13:g.44185097T>A , CM000669.1:g.44185097T>A GRCh37
NC_000007.12:g.44151622T>A NCBI36
NG_008847.1:g.48926A>T
NG_008847.2:g.57673A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1250A>T ENSP00000379142.4:n.*1250A>T
ENST00000616242.5:c.*372A>T ENSP00000482149.2:n.*372A>T
ENST00000683378.1:n.478A>T
ENST00000336642.9:c.286A>T ENSP00000338009.5:p.Ser96Cys
ENST00000345378.7:c.1255A>T ENSP00000223366.2:p.Ser419Cys
ENST00000403799.8:c.1252A>T MANE Select ENSP00000384247.3:p.Ser418Cys
ENST00000671824.1:c.1315A>T ENSP00000500264.1:p.Ser439Cys
ENST00000672743.1:n.264A>T
ENST00000673284.1:c.1252A>T ENSP00000499852.1:p.Ser418Cys
ENST00000336642.8:c.304A>T ENSP00000338009.4:p.Ser102Cys
ENST00000345378.6:c.1255A>T ENSP00000223366.2:p.Ser419Cys
ENST00000395796.7:c.1249A>T ENSP00000379142.3:p.Ser417Cys
ENST00000403799.7:c.1252A>T ENSP00000384247.3:p.Ser418Cys
ENST00000437084.1:c.1201A>T ENSP00000402840.1:p.Ser401Cys
ENST00000459642.1:n.632A>T
ENST00000616242.4:c.1249A>T ENSP00000482149.1:p.Ser417Cys
NM_000162.3:c.1252A>T NP_000153.1:p.Ser418Cys
NM_033507.1:c.1255A>T NP_277042.1:p.Ser419Cys
NM_033508.1:c.1249A>T NP_277043.1:p.Ser417Cys
NM_000162.4:c.1252A>T NP_000153.1:p.Ser418Cys
NM_001354800.1:c.1252A>T NP_001341729.1:p.Ser418Cys
NM_001354801.1:c.241A>T NP_001341730.1:p.Ser81Cys
NM_001354802.1:c.112A>T NP_001341731.1:p.Ser38Cys
NM_001354803.1:c.286A>T NP_001341732.1:p.Ser96Cys
NM_033507.2:c.1255A>T NP_277042.1:p.Ser419Cys
NM_033508.2:c.1249A>T NP_277043.1:p.Ser417Cys
XM_024446707.1:c.112A>T XP_024302475.1:p.Ser38Cys
NM_000162.5:c.1252A>T MANE Select NP_000153.1:p.Ser418Cys
NM_033507.3:c.1255A>T NP_277042.1:p.Ser419Cys
NM_033508.3:c.1249A>T NP_277043.1:p.Ser417Cys
NM_001354803.2:c.286A>T NP_001341732.1:p.Ser96Cys