Canonical Allele Identifier: CA414410230
Gene: GLUD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.120182265A>G (hg19) chrX:g.121048411A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048411A>G , CM000685.2:g.121048411A>G GRCh38
NC_000023.10:g.120182265A>G , CM000685.1:g.120182265A>G GRCh37
NC_000023.9:g.120009946A>G NCBI36
NG_016456.1:g.5804A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328078.3:c.727A>G MANE Select ENSP00000327589.1:p.Thr243Ala
ENST00000328078.2:c.727A>G ENSP00000327589.1:p.Thr243Ala
NM_012084.3:c.727A>G NP_036216.2:p.Thr243Ala
NM_012084.4:c.727A>G MANE Select NP_036216.2:p.Thr243Ala
Search 100 bp 5'
Search 100 bp 3'