Canonical Allele Identifier: CA367399217
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145692-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145692C>A , CM000669.2:g.44145692C>A GRCh38
NC_000007.13:g.44185291C>A , CM000669.1:g.44185291C>A GRCh37
NC_000007.12:g.44151816C>A NCBI36
NG_008847.1:g.48732G>T
NG_008847.2:g.57479G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1056G>T ENSP00000379142.4:n.*1056G>T
ENST00000616242.5:c.*178G>T ENSP00000482149.2:n.*178G>T
ENST00000683378.1:n.284G>T
ENST00000336642.9:c.92G>T ENSP00000338009.5:p.Ser31Ile
ENST00000345378.7:c.1061G>T ENSP00000223366.2:p.Ser354Ile
ENST00000403799.8:c.1058G>T MANE Select ENSP00000384247.3:p.Ser353Ile
ENST00000671824.1:c.1121G>T ENSP00000500264.1:p.Ser374Ile
ENST00000672743.1:n.70G>T
ENST00000673284.1:c.1058G>T ENSP00000499852.1:p.Ser353Ile
ENST00000336642.8:c.110G>T ENSP00000338009.4:p.Ser37Ile
ENST00000345378.6:c.1061G>T ENSP00000223366.2:p.Ser354Ile
ENST00000395796.7:c.1055G>T ENSP00000379142.3:p.Ser352Ile
ENST00000403799.7:c.1058G>T ENSP00000384247.3:p.Ser353Ile
ENST00000437084.1:c.1007G>T ENSP00000402840.1:p.Ser336Ile
ENST00000459642.1:n.438G>T
ENST00000473353.1:n.356G>T
ENST00000616242.4:c.1055G>T ENSP00000482149.1:p.Ser352Ile
NM_000162.3:c.1058G>T NP_000153.1:p.Ser353Ile
NM_033507.1:c.1061G>T NP_277042.1:p.Ser354Ile
NM_033508.1:c.1055G>T NP_277043.1:p.Ser352Ile
NM_000162.4:c.1058G>T NP_000153.1:p.Ser353Ile
NM_001354800.1:c.1058G>T NP_001341729.1:p.Ser353Ile
NM_001354801.1:c.47G>T NP_001341730.1:p.Ser16Ile
NM_001354802.1:c.-83G>T NP_001341731.1:n.-83G>T
NM_001354803.1:c.92G>T NP_001341732.1:p.Ser31Ile
NM_033507.2:c.1061G>T NP_277042.1:p.Ser354Ile
NM_033508.2:c.1055G>T NP_277043.1:p.Ser352Ile
XM_024446707.1:c.-83G>T XP_024302475.1:n.-83G>T
NM_000162.5:c.1058G>T MANE Select NP_000153.1:p.Ser353Ile
NM_033507.3:c.1061G>T NP_277042.1:p.Ser354Ile
NM_033508.3:c.1055G>T NP_277043.1:p.Ser352Ile
NM_001354803.2:c.92G>T NP_001341732.1:p.Ser31Ile