Canonical Allele Identifier: CA412613471
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048713729

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013700C>T , CM000685.2:g.25013700C>T GRCh38
NC_000023.10:g.25031817C>T , CM000685.1:g.25031817C>T GRCh37
NC_000023.9:g.24941738C>T NCBI36
NG_008281.1:g.7249G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.295G>A MANE Select ENSP00000368332.4:p.Gly99Ser
ENST00000379044.4:c.295G>A ENSP00000368332.4:p.Gly99Ser
NM_139058.2:c.295G>A NP_620689.1:p.Gly99Ser
NM_139058.3:c.295G>A MANE Select NP_620689.1:p.Gly99Ser