Canonical Allele Identifier: CA641364676
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1387281585
gnomAD v2: X-25023048-G-C
gnomAD v4: X-25004931-G-C
MyVariant Identifiers: chrX:g.25023048G>C (hg19) chrX:g.25004931G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004931G>C , CM000685.2:g.25004931G>C GRCh38
NC_000023.10:g.25023048G>C , CM000685.1:g.25023048G>C GRCh37
NC_000023.9:g.24932969G>C NCBI36
NG_008281.1:g.16018C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1449-21C>G MANE Select ENSP00000368332.4:n.1449-21C>G
ENST00000636885.1:n.37-21C>G
ENST00000379044.4:c.1449-21C>G ENSP00000368332.4:n.1449-21C>G
NM_139058.2:c.1449-21C>G NP_620689.1:n.1449-21C>G
NM_139058.3:c.1449-21C>G MANE Select NP_620689.1:n.1449-21C>G
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