Canonical Allele Identifier: CA412611575
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1225160556
gnomAD v2: X-25025504-G-C
MyVariant Identifiers: chrX:g.25025504G>C (hg19) chrX:g.25007387G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007387G>C , CM000685.2:g.25007387G>C GRCh38
NC_000023.10:g.25025504G>C , CM000685.1:g.25025504G>C GRCh37
NC_000023.9:g.24935425G>C NCBI36
NG_008281.1:g.13562C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1172C>G MANE Select ENSP00000368332.4:p.Ala391Gly
ENST00000379044.4:c.1172C>G ENSP00000368332.4:p.Ala391Gly
NM_139058.2:c.1172C>G NP_620689.1:p.Ala391Gly
NM_139058.3:c.1172C>G MANE Select NP_620689.1:p.Ala391Gly
Search 100 bp 5'
Search 100 bp 3'