Canonical Allele Identifier: CA335040649
Gene: GLUD2 HGNC NCBI
dbSNP:
28928873
gnomAD v2:
X:120182358 C / T
gnomAD v4:
chrX-121048504-C-T
Joint Max Group AF 0.00000105 (NFE)
Exomes Max Group AF 0.00000111 (NFE)
MyVariant.info:
GRCh38 chrX:g.121048504C>T
GRCh37 chrX:g.120182358C>T
Revel Score:
ENST00000328078 (MANE Select) 0.606
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.121048504C>T , CM000685.2:g.121048504C>T GRCh38
NC_000023.10:g.120182358C>T , CM000685.1:g.120182358C>T GRCh37
NC_000023.9:g.120010039C>T NCBI36
NG_016456.1:g.5897C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328078.3:c.820C>T MANE Select ENSP00000327589.1:p.Arg274Cys
ENST00000328078.2:c.820C>T ENSP00000327589.1:p.Arg274Cys
NM_012084.3:c.820C>T NP_036216.2:p.Arg274Cys
NM_012084.4:c.820C>T MANE Select NP_036216.2:p.Arg274Cys
Search 100 bp 5'
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