Canonical Allele Identifier: CA1131756330
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048697190
gnomAD v3: X-25010360-C-T
gnomAD v4: X-25010360-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010360C>T , CM000685.2:g.25010360C>T GRCh38
NC_000023.10:g.25028477C>T , CM000685.1:g.25028477C>T GRCh37
NC_000023.9:g.24938398C>T NCBI36
NG_008281.1:g.10589G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1074-55G>A MANE Select ENSP00000368332.4:n.1074-55G>A
ENST00000379044.4:c.1074-55G>A ENSP00000368332.4:n.1074-55G>A
NM_139058.2:c.1074-55G>A NP_620689.1:n.1074-55G>A
NM_139058.3:c.1074-55G>A MANE Select NP_620689.1:n.1074-55G>A
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