Canonical Allele Identifier: CA412611642
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25007417-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007417G>A , CM000685.2:g.25007417G>A GRCh38
NC_000023.10:g.25025534G>A , CM000685.1:g.25025534G>A GRCh37
NC_000023.9:g.24935455G>A NCBI36
NG_008281.1:g.13532C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1142C>T MANE Select ENSP00000368332.4:p.Ala381Val
ENST00000379044.4:c.1142C>T ENSP00000368332.4:p.Ala381Val
NM_139058.2:c.1142C>T NP_620689.1:p.Ala381Val
NM_139058.3:c.1142C>T MANE Select NP_620689.1:p.Ala381Val