Canonical Allele Identifier: CA412612417

Gene: ARX

Linked Data

• dbSNP Id: rs777296673
• gnomAD v2: X-25031319-G-C
• gnomAD v4: X-25013202-G-C
• MyVariant Identifiers: chrX:g.25031319G>C (hg19) ; chrX:g.25013202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013202G>C , CM000685.2:g.25013202G>C	GRCh38
NC_000023.10:g.25031319G>C , CM000685.1:g.25031319G>C	GRCh37
NC_000023.9:g.24941240G>C	NCBI36
NG_008281.1:g.7747C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.793C>G MANE Select	ENSP00000368332.4:p.Arg265Gly
ENST00000379044.4:c.793C>G	ENSP00000368332.4:p.Arg265Gly
NM_139058.2:c.793C>G	NP_620689.1:p.Arg265Gly
NM_139058.3:c.793C>G MANE Select	NP_620689.1:p.Arg265Gly