Canonical Allele Identifier: CA412612927
Gene: ARX HGNC NCBI

Linked Data

gnomAD v3: X-25013444-G-A
gnomAD v4: X-25013444-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013444G>A , CM000685.2:g.25013444G>A GRCh38
NC_000023.10:g.25031561G>A , CM000685.1:g.25031561G>A GRCh37
NC_000023.9:g.24941482G>A NCBI36
NG_008281.1:g.7505C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.551C>T MANE Select ENSP00000368332.4:p.Pro184Leu
ENST00000379044.4:c.551C>T ENSP00000368332.4:p.Pro184Leu
NM_139058.2:c.551C>T NP_620689.1:p.Pro184Leu
NM_139058.3:c.551C>T MANE Select NP_620689.1:p.Pro184Leu