Canonical Allele Identifier: CA414410235

Gene: GLUD2

Linked Data

• gnomAD v4: X-121048414-A-G
• MyVariant Identifiers: chrX:g.120182268A>G (hg19) ; chrX:g.121048414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.121048414A>G , CM000685.2:g.121048414A>G	GRCh38
NC_000023.10:g.120182268A>G , CM000685.1:g.120182268A>G	GRCh37
NC_000023.9:g.120009949A>G	NCBI36
NG_016456.1:g.5807A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328078.3:c.730A>G MANE Select	ENSP00000327589.1:p.Ile244Val
ENST00000328078.2:c.730A>G	ENSP00000327589.1:p.Ile244Val
NM_012084.3:c.730A>G	NP_036216.2:p.Ile244Val
NM_012084.4:c.730A>G MANE Select	NP_036216.2:p.Ile244Val