Canonical Allele Identifier: CA377467385
Gene: GLUD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87060949C>A , CM000672.2:g.87060949C>A GRCh38
NC_000010.10:g.88820706C>A , CM000672.1:g.88820706C>A GRCh37
NC_000010.9:g.88810686C>A NCBI36
NG_013010.1:g.39071G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000474574.2:n.2600G>T
ENST00000487058.2:n.237G>T
ENST00000681987.1:n.863G>T
ENST00000681988.1:c.524G>T ENSP00000507316.1:p.Gly175Val
ENST00000682396.1:c.1016G>T ENSP00000506764.1:n.1016G>T
ENST00000682507.1:c.524G>T ENSP00000508098.1:p.Gly175Val
ENST00000682622.1:c.1305G>T ENSP00000506732.1:n.1305G>T
ENST00000682833.1:c.860G>T
ENST00000683022.1:c.1046G>T
ENST00000683256.1:c.524G>T ENSP00000507901.1:p.Gly175Val
ENST00000683269.1:c.524G>T ENSP00000508107.1:p.Gly175Val
ENST00000683647.1:n.4359G>T
ENST00000683783.1:c.524G>T ENSP00000507881.1:p.Gly175Val
ENST00000683813.1:n.753G>T
ENST00000684032.1:c.880G>T ENSP00000506969.1:n.880G>T
ENST00000684201.1:c.922-708G>T ENSP00000507887.1:n.922-708G>T
ENST00000684338.1:c.1025G>T ENSP00000507457.1:p.Gly342Val
ENST00000684372.1:c.524G>T ENSP00000508244.1:p.Gly175Val
ENST00000684392.1:n.1756G>T
ENST00000684434.1:c.496G>T
ENST00000684546.1:c.524G>T ENSP00000507729.1:p.Gly175Val
ENST00000684690.1:n.806G>T
ENST00000684699.1:n.3158G>T
ENST00000277865.5:c.1025G>T MANE Select ENSP00000277865.4:p.Gly342Val
ENST00000277865.4:c.1025G>T ENSP00000277865.4:p.Gly342Val
ENST00000465164.1:n.104G>T
NM_005271.3:c.1025G>T NP_005262.1:p.Gly342Val
XM_011539668.1:c.524G>T XP_011537970.1:p.Gly175Val
XM_011539669.1:c.524G>T XP_011537971.1:p.Gly175Val
NM_001318900.1:c.626G>T NP_001305829.1:p.Gly209Val
NM_001318901.1:c.524G>T NP_001305830.1:p.Gly175Val
NM_001318902.1:c.524G>T NP_001305831.1:p.Gly175Val
NM_001318904.1:c.524G>T NP_001305833.1:p.Gly175Val
NM_001318905.1:c.524G>T NP_001305834.1:p.Gly175Val
NM_001318906.1:c.524G>T NP_001305835.1:p.Gly175Val
NM_005271.4:c.1025G>T NP_005262.1:p.Gly342Val
NM_005271.5:c.1025G>T MANE Select NP_005262.1:p.Gly342Val
NM_001318904.2:c.524G>T NP_001305833.1:p.Gly175Val
NM_001318905.2:c.524G>T NP_001305834.1:p.Gly175Val
NM_001318906.2:c.524G>T NP_001305835.1:p.Gly175Val