Canonical Allele Identifier: CA414410284

Gene: GLUD2

Linked Data

• MyVariant Identifiers: chrX:g.120182288T>A (hg19) ; chrX:g.121048434T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.121048434T>A , CM000685.2:g.121048434T>A	GRCh38
NC_000023.10:g.120182288T>A , CM000685.1:g.120182288T>A	GRCh37
NC_000023.9:g.120009969T>A	NCBI36
NG_016456.1:g.5827T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328078.3:c.750T>A MANE Select	ENSP00000327589.1:p.Asn250Lys
ENST00000328078.2:c.750T>A	ENSP00000327589.1:p.Asn250Lys
NM_012084.3:c.750T>A	NP_036216.2:p.Asn250Lys
NM_012084.4:c.750T>A MANE Select	NP_036216.2:p.Asn250Lys