Canonical Allele Identifier: CA414410243
Gene: GLUD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048417G>T , CM000685.2:g.121048417G>T GRCh38
NC_000023.10:g.120182271G>T , CM000685.1:g.120182271G>T GRCh37
NC_000023.9:g.120009952G>T NCBI36
NG_016456.1:g.5810G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328078.3:c.733G>T MANE Select ENSP00000327589.1:p.Gly245Trp
ENST00000328078.2:c.733G>T ENSP00000327589.1:p.Gly245Trp
NM_012084.3:c.733G>T NP_036216.2:p.Gly245Trp
NM_012084.4:c.733G>T MANE Select NP_036216.2:p.Gly245Trp