Canonical Allele Identifier: CA367402731
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44152321-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44152321G>A , CM000669.2:g.44152321G>A GRCh38
NC_000007.13:g.44191920G>A , CM000669.1:g.44191920G>A GRCh37
NC_000007.12:g.44158445G>A NCBI36
NG_008847.1:g.42103C>T
NG_008847.2:g.50850C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*311C>T ENSP00000379142.4:n.*311C>T
ENST00000616242.5:c.313C>T ENSP00000482149.2:p.His105Tyr
ENST00000682635.1:n.799C>T
ENST00000345378.7:c.316C>T ENSP00000223366.2:p.His106Tyr
ENST00000403799.8:c.313C>T MANE Select ENSP00000384247.3:p.His105Tyr
ENST00000671824.1:c.313C>T ENSP00000500264.1:p.His105Tyr
ENST00000673284.1:c.313C>T ENSP00000499852.1:p.His105Tyr
ENST00000345378.6:c.316C>T ENSP00000223366.2:p.His106Tyr
ENST00000395796.7:c.310C>T ENSP00000379142.3:p.His104Tyr
ENST00000403799.7:c.313C>T ENSP00000384247.3:p.His105Tyr
ENST00000437084.1:c.313C>T ENSP00000402840.1:p.His105Tyr
ENST00000616242.4:c.310C>T ENSP00000482149.1:p.His104Tyr
NM_000162.3:c.313C>T NP_000153.1:p.His105Tyr
NM_033507.1:c.316C>T NP_277042.1:p.His106Tyr
NM_033508.1:c.310C>T NP_277043.1:p.His104Tyr
NM_000162.4:c.313C>T NP_000153.1:p.His105Tyr
NM_001354800.1:c.313C>T NP_001341729.1:p.His105Tyr
NM_033507.2:c.316C>T NP_277042.1:p.His106Tyr
NM_033508.2:c.310C>T NP_277043.1:p.His104Tyr
NM_000162.5:c.313C>T MANE Select NP_000153.1:p.His105Tyr
NM_033507.3:c.316C>T NP_277042.1:p.His106Tyr
NM_033508.3:c.310C>T NP_277043.1:p.His104Tyr