Canonical Allele Identifier: CA2738476532
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2147323378

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012747C>T , CM000685.2:g.25012747C>T GRCh38
NC_000023.10:g.25030864C>T , CM000685.1:g.25030864C>T GRCh37
NC_000023.9:g.24940785C>T NCBI36
NG_008281.1:g.8202G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1073+175G>A MANE Select ENSP00000368332.4:n.1073+175G>A
ENST00000379044.4:c.1073+175G>A ENSP00000368332.4:n.1073+175G>A
NM_139058.2:c.1073+175G>A NP_620689.1:n.1073+175G>A
NM_139058.3:c.1073+175G>A MANE Select NP_620689.1:n.1073+175G>A