Canonical Allele Identifier: CA412610798
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25004819-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004819A>G , CM000685.2:g.25004819A>G GRCh38
NC_000023.10:g.25022936A>G , CM000685.1:g.25022936A>G GRCh37
NC_000023.9:g.24932857A>G NCBI36
NG_008281.1:g.16130T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1540T>C MANE Select ENSP00000368332.4:p.Ser514Pro
ENST00000379044.4:c.1540T>C ENSP00000368332.4:p.Ser514Pro
NM_139058.2:c.1540T>C NP_620689.1:p.Ser514Pro
NM_139058.3:c.1540T>C MANE Select NP_620689.1:p.Ser514Pro