Canonical Allele Identifier: CA412612550
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013265-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013265G>T , CM000685.2:g.25013265G>T GRCh38
NC_000023.10:g.25031382G>T , CM000685.1:g.25031382G>T GRCh37
NC_000023.9:g.24941303G>T NCBI36
NG_008281.1:g.7684C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.730C>A MANE Select ENSP00000368332.4:p.Leu244Met
ENST00000379044.4:c.730C>A ENSP00000368332.4:p.Leu244Met
NM_139058.2:c.730C>A NP_620689.1:p.Leu244Met
NM_139058.3:c.730C>A MANE Select NP_620689.1:p.Leu244Met