Canonical Allele Identifier: CA414410219
Gene: GLUD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.120182260C>T (hg19) chrX:g.121048406C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048406C>T , CM000685.2:g.121048406C>T GRCh38
NC_000023.10:g.120182260C>T , CM000685.1:g.120182260C>T GRCh37
NC_000023.9:g.120009941C>T NCBI36
NG_016456.1:g.5799C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328078.3:c.722C>T MANE Select ENSP00000327589.1:p.Ala241Val
ENST00000328078.2:c.722C>T ENSP00000327589.1:p.Ala241Val
NM_012084.3:c.722C>T NP_036216.2:p.Ala241Val
NM_012084.4:c.722C>T MANE Select NP_036216.2:p.Ala241Val
Search 100 bp 5'
Search 100 bp 3'