Canonical Allele Identifier: CA412612135
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013064-C-G
MyVariant Identifiers: chrX:g.25031181C>G (hg19) chrX:g.25013064C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013064C>G , CM000685.2:g.25013064C>G GRCh38
NC_000023.10:g.25031181C>G , CM000685.1:g.25031181C>G GRCh37
NC_000023.9:g.24941102C>G NCBI36
NG_008281.1:g.7885G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.931G>C MANE Select ENSP00000368332.4:p.Val311Leu
ENST00000379044.4:c.931G>C ENSP00000368332.4:p.Val311Leu
NM_139058.2:c.931G>C NP_620689.1:p.Val311Leu
NM_139058.3:c.931G>C MANE Select NP_620689.1:p.Val311Leu
Search 100 bp 5'
Search 100 bp 3'