Canonical Allele Identifier: CA414410288
Gene: GLUD2 HGNC NCBI

Linked Data

gnomAD v4: X-121048435-G-A
MyVariant Identifiers: chrX:g.120182289G>A (hg19) chrX:g.121048435G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048435G>A , CM000685.2:g.121048435G>A GRCh38
NC_000023.10:g.120182289G>A , CM000685.1:g.120182289G>A GRCh37
NC_000023.9:g.120009970G>A NCBI36
NG_016456.1:g.5828G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.751G>A MANE Select ENSP00000327589.1:p.Ala251Thr
ENST00000328078.2:c.751G>A ENSP00000327589.1:p.Ala251Thr
NM_012084.3:c.751G>A NP_036216.2:p.Ala251Thr
NM_012084.4:c.751G>A MANE Select NP_036216.2:p.Ala251Thr
Search 100 bp 5'
Search 100 bp 3'