Canonical Allele Identifier: CA2693352358
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25004565-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004565C>A , CM000685.2:g.25004565C>A GRCh38
NC_000023.10:g.25022682C>A , CM000685.1:g.25022682C>A GRCh37
NC_000023.9:g.24932603C>A NCBI36
NG_008281.1:g.16384G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.*105G>T MANE Select ENSP00000368332.4:n.*105G>T
ENST00000379044.4:c.*105G>T ENSP00000368332.4:n.*105G>T
NM_139058.2:c.*105G>T NP_620689.1:n.*105G>T
NM_139058.3:c.*105G>T MANE Select NP_620689.1:n.*105G>T
Search 100 bp 5'
Search 100 bp 3'