Canonical Allele Identifier: CA518461235
Gene: GLUD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.120182258T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048404T>C , CM000685.2:g.121048404T>C GRCh38
NC_000023.10:g.120182258T>C , CM000685.1:g.120182258T>C GRCh37
NC_000023.9:g.120009939T>C NCBI36
NG_016456.1:g.5797T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000328078.3:c.720T>C MANE Select ENSP00000327589.1:p.Tyr240=
ENST00000328078.2:c.720T>C ENSP00000327589.1:p.Tyr240=
NM_012084.3:c.720T>C NP_036216.2:p.Tyr240=
NM_012084.4:c.720T>C MANE Select NP_036216.2:p.Tyr240=