Canonical Allele Identifier: CA515748161
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1216416950
gnomAD v2: X-25023024-G-C
gnomAD v4: X-25004907-G-C
MyVariant Identifiers: chrX:g.25023024G>C (hg19) chrX:g.25004907G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004907G>C , CM000685.2:g.25004907G>C GRCh38
NC_000023.10:g.25023024G>C , CM000685.1:g.25023024G>C GRCh37
NC_000023.9:g.24932945G>C NCBI36
NG_008281.1:g.16042C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1452C>G MANE Select ENSP00000368332.4:p.Leu484=
ENST00000636885.1:n.40C>G
ENST00000379044.4:c.1452C>G ENSP00000368332.4:p.Leu484=
NM_139058.2:c.1452C>G NP_620689.1:p.Leu484=
NM_139058.3:c.1452C>G MANE Select NP_620689.1:p.Leu484=
Search 100 bp 5'
Search 100 bp 3'