Canonical Allele Identifier: CA414410260
Gene: GLUD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048424A>T , CM000685.2:g.121048424A>T GRCh38
NC_000023.10:g.120182278A>T , CM000685.1:g.120182278A>T GRCh37
NC_000023.9:g.120009959A>T NCBI36
NG_016456.1:g.5817A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.740A>T MANE Select ENSP00000327589.1:p.Tyr247Phe
ENST00000328078.2:c.740A>T ENSP00000327589.1:p.Tyr247Phe
NM_012084.3:c.740A>T NP_036216.2:p.Tyr247Phe
NM_012084.4:c.740A>T MANE Select NP_036216.2:p.Tyr247Phe