Canonical Allele Identifier: CA518461253
Gene: GLUD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.120182270A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048416A>T , CM000685.2:g.121048416A>T GRCh38
NC_000023.10:g.120182270A>T , CM000685.1:g.120182270A>T GRCh37
NC_000023.9:g.120009951A>T NCBI36
NG_016456.1:g.5809A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328078.3:c.732A>T MANE Select ENSP00000327589.1:p.Ile244=
ENST00000328078.2:c.732A>T ENSP00000327589.1:p.Ile244=
NM_012084.3:c.732A>T NP_036216.2:p.Ile244=
NM_012084.4:c.732A>T MANE Select NP_036216.2:p.Ile244=