Canonical Allele Identifier: CA2420205984
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004897T= , CM000685.2:g.25004897T= GRCh38
NC_000023.10:g.25023014T= , CM000685.1:g.25023014T= GRCh37
NC_000023.9:g.24932935T= NCBI36
NG_008281.1:g.16052A=

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1462A= MANE Select ENSP00000368332.4:p.Met488=
ENST00000636885.1:n.50A=
ENST00000379044.4:c.1462A= ENSP00000368332.4:p.Met488=
NM_139058.2:c.1462A= NP_620689.1:p.Met488=
NM_139058.3:c.1462A= MANE Select NP_620689.1:p.Met488=