Canonical Allele Identifier: CA10373864
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs774240160
ExAC: X:25031201 C / A
gnomAD v2: X-25031201-C-A
gnomAD v4: X-25013084-C-A
MyVariant Identifiers: chrX:g.25031201C>A (hg19) chrX:g.25013084C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013084C>A , CM000685.2:g.25013084C>A GRCh38
NC_000023.10:g.25031201C>A , CM000685.1:g.25031201C>A GRCh37
NC_000023.9:g.24941122C>A NCBI36
NG_008281.1:g.7865G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.911G>T MANE Select ENSP00000368332.4:p.Gly304Val
ENST00000379044.4:c.911G>T ENSP00000368332.4:p.Gly304Val
NM_139058.2:c.911G>T NP_620689.1:p.Gly304Val
NM_139058.3:c.911G>T MANE Select NP_620689.1:p.Gly304Val
Search 100 bp 5'
Search 100 bp 3'