Canonical Allele Identifier: CA2420205983
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004896A= , CM000685.2:g.25004896A= GRCh38
NC_000023.10:g.25023013A= , CM000685.1:g.25023013A= GRCh37
NC_000023.9:g.24932934A= NCBI36
NG_008281.1:g.16053T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1463T= MANE Select ENSP00000368332.4:p.Met488=
ENST00000636885.1:n.51T=
ENST00000379044.4:c.1463T= ENSP00000368332.4:p.Met488=
NM_139058.2:c.1463T= NP_620689.1:p.Met488=
NM_139058.3:c.1463T= MANE Select NP_620689.1:p.Met488=
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