Canonical Allele Identifier: CA367401319
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44149817-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149817C>A , CM000669.2:g.44149817C>A GRCh38
NC_000007.13:g.44189416C>A , CM000669.1:g.44189416C>A GRCh37
NC_000007.12:g.44155941C>A NCBI36
NG_008847.1:g.44607G>T
NG_008847.2:g.53354G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*620G>T ENSP00000379142.4:n.*620G>T
ENST00000616242.5:c.622G>T ENSP00000482149.2:p.Ala208Ser
ENST00000682635.1:n.1108G>T
ENST00000345378.7:c.625G>T ENSP00000223366.2:p.Ala209Ser
ENST00000403799.8:c.622G>T MANE Select ENSP00000384247.3:p.Ala208Ser
ENST00000671824.1:c.622G>T ENSP00000500264.1:p.Ala208Ser
ENST00000673284.1:c.622G>T ENSP00000499852.1:p.Ala208Ser
ENST00000345378.6:c.625G>T ENSP00000223366.2:p.Ala209Ser
ENST00000395796.7:c.619G>T ENSP00000379142.3:p.Ala207Ser
ENST00000403799.7:c.622G>T ENSP00000384247.3:p.Ala208Ser
ENST00000437084.1:c.571G>T ENSP00000402840.1:p.Ala191Ser
ENST00000616242.4:c.619G>T ENSP00000482149.1:p.Ala207Ser
NM_000162.3:c.622G>T NP_000153.1:p.Ala208Ser
NM_033507.1:c.625G>T NP_277042.1:p.Ala209Ser
NM_033508.1:c.619G>T NP_277043.1:p.Ala207Ser
NM_000162.4:c.622G>T NP_000153.1:p.Ala208Ser
NM_001354800.1:c.622G>T NP_001341729.1:p.Ala208Ser
NM_033507.2:c.625G>T NP_277042.1:p.Ala209Ser
NM_033508.2:c.619G>T NP_277043.1:p.Ala207Ser
NM_000162.5:c.622G>T MANE Select NP_000153.1:p.Ala208Ser
NM_033507.3:c.625G>T NP_277042.1:p.Ala209Ser
NM_033508.3:c.619G>T NP_277043.1:p.Ala207Ser