Canonical Allele Identifier: CA414410247
Gene: GLUD2 HGNC NCBI

Linked Data

gnomAD v4: X-121048420-C-A
MyVariant Identifiers: chrX:g.120182274C>A (hg19) chrX:g.121048420C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.736C>A MANE Select ENSP00000327589.1:p.His246Asn
ENST00000328078.2:c.736C>A ENSP00000327589.1:p.His246Asn
NM_012084.3:c.736C>A NP_036216.2:p.His246Asn
NM_012084.4:c.736C>A MANE Select NP_036216.2:p.His246Asn
Search 100 bp 5'
Search 100 bp 3'