Canonical Allele Identifier: CA412611715
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010264A>G , CM000685.2:g.25010264A>G GRCh38
NC_000023.10:g.25028381A>G , CM000685.1:g.25028381A>G GRCh37
NC_000023.9:g.24938302A>G NCBI36
NG_008281.1:g.10685T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.4:c.1115T>C ENSP00000368332.4:p.Val372Ala
NM_139058.2:c.1115T>C NP_620689.1:p.Val372Ala
NM_139058.3:c.1115T>C MANE Select NP_620689.1:p.Val372Ala