Canonical Allele Identifier: CA515747949
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 624394
ClinVar RCV Id: RCV000762614 RCV002067205
dbSNP Id: rs1480681695
gnomAD v2: X-25022871-C-G
gnomAD v4: X-25004754-C-G
MyVariant Identifiers: chrX:g.25022871C>G (hg19) chrX:g.25004754C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004754C>G , CM000685.2:g.25004754C>G GRCh38
NC_000023.10:g.25022871C>G , CM000685.1:g.25022871C>G GRCh37
NC_000023.9:g.24932792C>G NCBI36
NG_008281.1:g.16195G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1605G>C MANE Select ENSP00000368332.4:p.Leu535=
ENST00000379044.4:c.1605G>C ENSP00000368332.4:p.Leu535=
NM_139058.2:c.1605G>C NP_620689.1:p.Leu535=
NM_139058.3:c.1605G>C MANE Select NP_620689.1:p.Leu535=
Search 100 bp 5'
Search 100 bp 3'