Canonical Allele Identifier: CA470670288
Gene: GLUD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.88820696T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87060939T>C , CM000672.2:g.87060939T>C GRCh38
NC_000010.10:g.88820696T>C , CM000672.1:g.88820696T>C GRCh37
NC_000010.9:g.88810676T>C NCBI36
NG_013010.1:g.39081A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000474574.2:n.2610A>G
ENST00000487058.2:n.247A>G
ENST00000681987.1:n.873A>G
ENST00000681988.1:c.534A>G ENSP00000507316.1:p.Pro178=
ENST00000682396.1:c.1026A>G ENSP00000506764.1:n.1026A>G
ENST00000682507.1:c.534A>G ENSP00000508098.1:p.Pro178=
ENST00000682622.1:c.1315A>G ENSP00000506732.1:n.1315A>G
ENST00000682833.1:c.870A>G
ENST00000683022.1:c.1056A>G
ENST00000683256.1:c.534A>G ENSP00000507901.1:p.Pro178=
ENST00000683269.1:c.534A>G ENSP00000508107.1:p.Pro178=
ENST00000683647.1:n.4369A>G
ENST00000683783.1:c.534A>G ENSP00000507881.1:p.Pro178=
ENST00000683813.1:n.763A>G
ENST00000684032.1:c.890A>G ENSP00000506969.1:n.890A>G
ENST00000684201.1:c.922-698A>G ENSP00000507887.1:n.922-698A>G
ENST00000684338.1:c.1035A>G ENSP00000507457.1:p.Pro345=
ENST00000684372.1:c.534A>G ENSP00000508244.1:p.Pro178=
ENST00000684392.1:n.1766A>G
ENST00000684434.1:c.506A>G
ENST00000684546.1:c.534A>G ENSP00000507729.1:p.Pro178=
ENST00000684690.1:n.816A>G
ENST00000684699.1:n.3168A>G
ENST00000277865.5:c.1035A>G MANE Select ENSP00000277865.4:p.Pro345=
ENST00000277865.4:c.1035A>G ENSP00000277865.4:p.Pro345=
ENST00000465164.1:n.114A>G
NM_005271.3:c.1035A>G NP_005262.1:p.Pro345=
XM_011539668.1:c.534A>G XP_011537970.1:p.Pro178=
XM_011539669.1:c.534A>G XP_011537971.1:p.Pro178=
NM_001318900.1:c.636A>G NP_001305829.1:p.Pro212=
NM_001318901.1:c.534A>G NP_001305830.1:p.Pro178=
NM_001318902.1:c.534A>G NP_001305831.1:p.Pro178=
NM_001318904.1:c.534A>G NP_001305833.1:p.Pro178=
NM_001318905.1:c.534A>G NP_001305834.1:p.Pro178=
NM_001318906.1:c.534A>G NP_001305835.1:p.Pro178=
NM_005271.4:c.1035A>G NP_005262.1:p.Pro345=
NM_005271.5:c.1035A>G MANE Select NP_005262.1:p.Pro345=
NM_001318904.2:c.534A>G NP_001305833.1:p.Pro178=
NM_001318905.2:c.534A>G NP_001305834.1:p.Pro178=
NM_001318906.2:c.534A>G NP_001305835.1:p.Pro178=