Canonical Allele Identifier: CA518461243
Gene: GLUD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.120182264C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048410C>T , CM000685.2:g.121048410C>T GRCh38
NC_000023.10:g.120182264C>T , CM000685.1:g.120182264C>T GRCh37
NC_000023.9:g.120009945C>T NCBI36
NG_016456.1:g.5803C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328078.3:c.726C>T MANE Select ENSP00000327589.1:p.Ser242=
ENST00000328078.2:c.726C>T ENSP00000327589.1:p.Ser242=
NM_012084.3:c.726C>T NP_036216.2:p.Ser242=
NM_012084.4:c.726C>T MANE Select NP_036216.2:p.Ser242=