Canonical Allele Identifier: CA412611943
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25012977-G-T
MyVariant Identifiers: chrX:g.25031094G>T (hg19) chrX:g.25012977G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012977G>T , CM000685.2:g.25012977G>T GRCh38
NC_000023.10:g.25031094G>T , CM000685.1:g.25031094G>T GRCh37
NC_000023.9:g.24941015G>T NCBI36
NG_008281.1:g.7972C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1018C>A MANE Select ENSP00000368332.4:p.Leu340Met
ENST00000379044.4:c.1018C>A ENSP00000368332.4:p.Leu340Met
NM_139058.2:c.1018C>A NP_620689.1:p.Leu340Met
NM_139058.3:c.1018C>A MANE Select NP_620689.1:p.Leu340Met
Search 100 bp 5'
Search 100 bp 3'