Canonical Allele Identifier: CA414410311
Gene: GLUD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048445G>T , CM000685.2:g.121048445G>T GRCh38
NC_000023.10:g.120182299G>T , CM000685.1:g.120182299G>T GRCh37
NC_000023.9:g.120009980G>T NCBI36
NG_016456.1:g.5838G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.761G>T MANE Select ENSP00000327589.1:p.Cys254Phe
ENST00000328078.2:c.761G>T ENSP00000327589.1:p.Cys254Phe
NM_012084.3:c.761G>T NP_036216.2:p.Cys254Phe
NM_012084.4:c.761G>T MANE Select NP_036216.2:p.Cys254Phe