Canonical Allele Identifier: CA414410319

Gene: GLUD2

Linked Data

• gnomAD v4: X-121048448-T-G
• MyVariant Identifiers: chrX:g.120182302T>G (hg19) ; chrX:g.121048448T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.121048448T>G , CM000685.2:g.121048448T>G	GRCh38
NC_000023.10:g.120182302T>G , CM000685.1:g.120182302T>G	GRCh37
NC_000023.9:g.120009983T>G	NCBI36
NG_016456.1:g.5841T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328078.3:c.764T>G MANE Select	ENSP00000327589.1:p.Val255Gly
ENST00000328078.2:c.764T>G	ENSP00000327589.1:p.Val255Gly
NM_012084.3:c.764T>G	NP_036216.2:p.Val255Gly
NM_012084.4:c.764T>G MANE Select	NP_036216.2:p.Val255Gly