Canonical Allele Identifier: CA414410215
Gene: GLUD2 HGNC NCBI

Linked Data

COSMIC: COSM4106282
MyVariant Identifiers: chrX:g.120182259G>A (hg19) chrX:g.121048405G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048405G>A , CM000685.2:g.121048405G>A GRCh38
NC_000023.10:g.120182259G>A , CM000685.1:g.120182259G>A GRCh37
NC_000023.9:g.120009940G>A NCBI36
NG_016456.1:g.5798G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328078.3:c.721G>A MANE Select ENSP00000327589.1:p.Ala241Thr
ENST00000328078.2:c.721G>A ENSP00000327589.1:p.Ala241Thr
NM_012084.3:c.721G>A NP_036216.2:p.Ala241Thr
NM_012084.4:c.721G>A MANE Select NP_036216.2:p.Ala241Thr
Search 100 bp 5'
Search 100 bp 3'