Canonical Allele Identifier: CA414410306
Gene: GLUD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.120182298T>A (hg19) chrX:g.121048444T>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.760T>A MANE Select ENSP00000327589.1:p.Cys254Ser
ENST00000328078.2:c.760T>A ENSP00000327589.1:p.Cys254Ser
NM_012084.3:c.760T>A NP_036216.2:p.Cys254Ser
NM_012084.4:c.760T>A MANE Select NP_036216.2:p.Cys254Ser
Search 100 bp 5'
Search 100 bp 3'