Canonical Allele Identifier: CA233280
Community Standard Title: NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010268G>A , CM000685.2:g.25010268G>A GRCh38
NC_000023.10:g.25028385G>A , CM000685.1:g.25028385G>A GRCh37
NC_000023.9:g.24938306G>A NCBI36
NG_008281.1:g.10681C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139058.3:c.1111C>T MANE Select NP_620689.1:p.Arg371Ter
ENST00000379044.5:c.1111C>T MANE Select ENSP00000368332.4:p.Arg371Ter
NM_139058.2:c.1111C>T NP_620689.1:p.Arg371Ter
ENST00000379044.4:c.1111C>T ENSP00000368332.4:p.Arg371Ter
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