Canonical Allele Identifier: CA412612417
Gene: ARX HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'