Canonical Allele Identifier: CA414410274
Gene: GLUD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.120182283A>T (hg19) chrX:g.121048429A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048429A>T , CM000685.2:g.121048429A>T GRCh38
NC_000023.10:g.120182283A>T , CM000685.1:g.120182283A>T GRCh37
NC_000023.9:g.120009964A>T NCBI36
NG_016456.1:g.5822A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.745A>T MANE Select ENSP00000327589.1:p.Ile249Phe
ENST00000328078.2:c.745A>T ENSP00000327589.1:p.Ile249Phe
NM_012084.3:c.745A>T NP_036216.2:p.Ile249Phe
NM_012084.4:c.745A>T MANE Select NP_036216.2:p.Ile249Phe
Search 100 bp 5'
Search 100 bp 3'