Canonical Allele Identifier: CA412611913
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012963C>G , CM000685.2:g.25012963C>G GRCh38
NC_000023.10:g.25031080C>G , CM000685.1:g.25031080C>G GRCh37
NC_000023.9:g.24941001C>G NCBI36
NG_008281.1:g.7986G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1032G>C MANE Select ENSP00000368332.4:p.Glu344Asp
ENST00000379044.4:c.1032G>C ENSP00000368332.4:p.Glu344Asp
NM_139058.2:c.1032G>C NP_620689.1:p.Glu344Asp
NM_139058.3:c.1032G>C MANE Select NP_620689.1:p.Glu344Asp