Canonical Allele Identifier: CA2693352422
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25004663-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004663G>T , CM000685.2:g.25004663G>T GRCh38
NC_000023.10:g.25022780G>T , CM000685.1:g.25022780G>T GRCh37
NC_000023.9:g.24932701G>T NCBI36
NG_008281.1:g.16286C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.*7C>A MANE Select ENSP00000368332.4:n.*7C>A
ENST00000379044.4:c.*7C>A ENSP00000368332.4:n.*7C>A
NM_139058.2:c.*7C>A NP_620689.1:n.*7C>A
NM_139058.3:c.*7C>A MANE Select NP_620689.1:n.*7C>A