Canonical Allele Identifier: CA414410307
Gene: GLUD2 HGNC NCBI

Linked Data

dbSNP Id: rs1369485267
gnomAD v3: X-121048444-T-C
gnomAD v4: X-121048444-T-C
MyVariant Identifiers: chrX:g.120182298T>C (hg19) chrX:g.121048444T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048444T>C , CM000685.2:g.121048444T>C GRCh38
NC_000023.10:g.120182298T>C , CM000685.1:g.120182298T>C GRCh37
NC_000023.9:g.120009979T>C NCBI36
NG_016456.1:g.5837T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.760T>C MANE Select ENSP00000327589.1:p.Cys254Arg
ENST00000328078.2:c.760T>C ENSP00000327589.1:p.Cys254Arg
NM_012084.3:c.760T>C NP_036216.2:p.Cys254Arg
NM_012084.4:c.760T>C MANE Select NP_036216.2:p.Cys254Arg
Search 100 bp 5'
Search 100 bp 3'