Canonical Allele Identifier: CA2693352377
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25004594-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004594T>C , CM000685.2:g.25004594T>C GRCh38
NC_000023.10:g.25022711T>C , CM000685.1:g.25022711T>C GRCh37
NC_000023.9:g.24932632T>C NCBI36
NG_008281.1:g.16355A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.*76A>G MANE Select ENSP00000368332.4:n.*76A>G
ENST00000379044.4:c.*76A>G ENSP00000368332.4:n.*76A>G
NM_139058.2:c.*76A>G NP_620689.1:n.*76A>G
NM_139058.3:c.*76A>G MANE Select NP_620689.1:n.*76A>G
Search 100 bp 5'
Search 100 bp 3'