Canonical Allele Identifier: CA2420209220
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013338A= , CM000685.2:g.25013338A= GRCh38
NC_000023.10:g.25031455A= , CM000685.1:g.25031455A= GRCh37
NC_000023.9:g.24941376A= NCBI36
NG_008281.1:g.7611T=

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.657T= MANE Select ENSP00000368332.4:p.Gly219=
ENST00000379044.4:c.657T= ENSP00000368332.4:p.Gly219=
NM_139058.2:c.657T= NP_620689.1:p.Gly219=
NM_139058.3:c.657T= MANE Select NP_620689.1:p.Gly219=