Canonical Allele Identifier: CA515947885
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031461C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013344C>G , CM000685.2:g.25013344C>G GRCh38
NC_000023.10:g.25031461C>G , CM000685.1:g.25031461C>G GRCh37
NC_000023.9:g.24941382C>G NCBI36
NG_008281.1:g.7605G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.651G>C MANE Select ENSP00000368332.4:p.Ala217=
ENST00000379044.4:c.651G>C ENSP00000368332.4:p.Ala217=
NM_139058.2:c.651G>C NP_620689.1:p.Ala217=
NM_139058.3:c.651G>C MANE Select NP_620689.1:p.Ala217=