Canonical Allele Identifier: CA241829
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 195403
dbSNP Id: rs794727308
gnomAD v2: X-25031776-T-C
gnomAD v3: X-25013659-T-C
gnomAD v4: X-25013659-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013659T>C , CM000685.2:g.25013659T>C GRCh38
NC_000023.10:g.25031776T>C , CM000685.1:g.25031776T>C GRCh37
NC_000023.9:g.24941697T>C NCBI36
NG_008281.1:g.7290A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.336A>G MANE Select ENSP00000368332.4:p.Ala112=
ENST00000379044.4:c.336A>G ENSP00000368332.4:p.Ala112=
NM_139058.2:c.336A>G NP_620689.1:p.Ala112=
NM_139058.3:c.336A>G MANE Select NP_620689.1:p.Ala112=