Canonical Allele Identifier: CA518461249
Gene: GLUD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.120182267C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048413C>G , CM000685.2:g.121048413C>G GRCh38
NC_000023.10:g.120182267C>G , CM000685.1:g.120182267C>G GRCh37
NC_000023.9:g.120009948C>G NCBI36
NG_016456.1:g.5806C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328078.3:c.729C>G MANE Select ENSP00000327589.1:p.Thr243=
ENST00000328078.2:c.729C>G ENSP00000327589.1:p.Thr243=
NM_012084.3:c.729C>G NP_036216.2:p.Thr243=
NM_012084.4:c.729C>G MANE Select NP_036216.2:p.Thr243=