Canonical Allele Identifier: CA2420207066
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007278G= , CM000685.2:g.25007278G= GRCh38
NC_000023.10:g.25025395G= , CM000685.1:g.25025395G= GRCh37
NC_000023.9:g.24935316G= NCBI36
NG_008281.1:g.13671C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1281C= MANE Select ENSP00000368332.4:p.Asp427=
ENST00000379044.4:c.1281C= ENSP00000368332.4:p.Asp427=
NM_139058.2:c.1281C= NP_620689.1:p.Asp427=
NM_139058.3:c.1281C= MANE Select NP_620689.1:p.Asp427=
Search 100 bp 5'
Search 100 bp 3'