Canonical Allele Identifier: CA412613673
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013796-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013796A>G , CM000685.2:g.25013796A>G GRCh38
NC_000023.10:g.25031913A>G , CM000685.1:g.25031913A>G GRCh37
NC_000023.9:g.24941834A>G NCBI36
NG_008281.1:g.7153T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.199T>C MANE Select ENSP00000368332.4:p.Ser67Pro
ENST00000379044.4:c.199T>C ENSP00000368332.4:p.Ser67Pro
NM_139058.2:c.199T>C NP_620689.1:p.Ser67Pro
NM_139058.3:c.199T>C MANE Select NP_620689.1:p.Ser67Pro