Canonical Allele Identifier: CA414410302
Gene: GLUD2 HGNC NCBI

Linked Data

dbSNP Id: rs1456325344
gnomAD v2: X-120182295-G-T
gnomAD v4: X-121048441-G-T
MyVariant Identifiers: chrX:g.120182295G>T (hg19) chrX:g.121048441G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048441G>T , CM000685.2:g.121048441G>T GRCh38
NC_000023.10:g.120182295G>T , CM000685.1:g.120182295G>T GRCh37
NC_000023.9:g.120009976G>T NCBI36
NG_016456.1:g.5834G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.757G>T MANE Select ENSP00000327589.1:p.Ala253Ser
ENST00000328078.2:c.757G>T ENSP00000327589.1:p.Ala253Ser
NM_012084.3:c.757G>T NP_036216.2:p.Ala253Ser
NM_012084.4:c.757G>T MANE Select NP_036216.2:p.Ala253Ser
Search 100 bp 5'
Search 100 bp 3'