Canonical Allele Identifier: CA1131756351
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1379516753
gnomAD v3: X-25010458-C-A
gnomAD v4: X-25010458-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010458C>A , CM000685.2:g.25010458C>A GRCh38
NC_000023.10:g.25028575C>A , CM000685.1:g.25028575C>A GRCh37
NC_000023.9:g.24938496C>A NCBI36
NG_008281.1:g.10491G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1074-153G>T MANE Select ENSP00000368332.4:n.1074-153G>T
ENST00000379044.4:c.1074-153G>T ENSP00000368332.4:n.1074-153G>T
NM_139058.2:c.1074-153G>T NP_620689.1:n.1074-153G>T
NM_139058.3:c.1074-153G>T MANE Select NP_620689.1:n.1074-153G>T
Search 100 bp 5'
Search 100 bp 3'