Canonical Allele Identifier: CA412612969
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013462-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013462T>A , CM000685.2:g.25013462T>A GRCh38
NC_000023.10:g.25031579T>A , CM000685.1:g.25031579T>A GRCh37
NC_000023.9:g.24941500T>A NCBI36
NG_008281.1:g.7487A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.533A>T MANE Select ENSP00000368332.4:p.Asn178Ile
ENST00000379044.4:c.533A>T ENSP00000368332.4:p.Asn178Ile
NM_139058.2:c.533A>T NP_620689.1:p.Asn178Ile
NM_139058.3:c.533A>T MANE Select NP_620689.1:p.Asn178Ile