Canonical Allele Identifier: CA10373808
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 3025794
ClinVar RCV Id: RCV003885182
dbSNP Id: rs751770883
ExAC: X:25025302 C / G
gnomAD v2: X-25025302-C-G
gnomAD v3: X-25007185-C-G
gnomAD v4: X-25007185-C-G
MyVariant Identifiers: chrX:g.25025302C>G (hg19) chrX:g.25007185C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007185C>G , CM000685.2:g.25007185C>G GRCh38
NC_000023.10:g.25025302C>G , CM000685.1:g.25025302C>G GRCh37
NC_000023.9:g.24935223C>G NCBI36
NG_008281.1:g.13764G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1374G>C MANE Select ENSP00000368332.4:p.Ala458=
ENST00000379044.4:c.1374G>C ENSP00000368332.4:p.Ala458=
NM_139058.2:c.1374G>C NP_620689.1:p.Ala458=
NM_139058.3:c.1374G>C MANE Select NP_620689.1:p.Ala458=
Search 100 bp 5'
Search 100 bp 3'