Canonical Allele Identifier: CA412613624
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1314732642
gnomAD v3: X-25013774-G-A
gnomAD v4: X-25013774-G-A
MyVariant Identifiers: chrX:g.25031891G>A (hg19) chrX:g.25013774G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013774G>A , CM000685.2:g.25013774G>A GRCh38
NC_000023.10:g.25031891G>A , CM000685.1:g.25031891G>A GRCh37
NC_000023.9:g.24941812G>A NCBI36
NG_008281.1:g.7175C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.221C>T MANE Select ENSP00000368332.4:p.Pro74Leu
ENST00000379044.4:c.221C>T ENSP00000368332.4:p.Pro74Leu
NM_139058.2:c.221C>T NP_620689.1:p.Pro74Leu
NM_139058.3:c.221C>T MANE Select NP_620689.1:p.Pro74Leu
Search 100 bp 5'
Search 100 bp 3'