Canonical Allele Identifier: CA414410248
Gene: GLUD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.120182274C>G (hg19) chrX:g.121048420C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048420C>G , CM000685.2:g.121048420C>G GRCh38
NC_000023.10:g.120182274C>G , CM000685.1:g.120182274C>G GRCh37
NC_000023.9:g.120009955C>G NCBI36
NG_016456.1:g.5813C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.736C>G MANE Select ENSP00000327589.1:p.His246Asp
ENST00000328078.2:c.736C>G ENSP00000327589.1:p.His246Asp
NM_012084.3:c.736C>G NP_036216.2:p.His246Asp
NM_012084.4:c.736C>G MANE Select NP_036216.2:p.His246Asp
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