Canonical Allele Identifier: CA1131755535
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs996309074
gnomAD v3: X-25007051-C-G
gnomAD v4: X-25007051-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007051C>G , CM000685.2:g.25007051C>G GRCh38
NC_000023.10:g.25025168C>G , CM000685.1:g.25025168C>G GRCh37
NC_000023.9:g.24935089C>G NCBI36
NG_008281.1:g.13898G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1448+60G>C MANE Select ENSP00000368332.4:n.1448+60G>C
ENST00000637993.1:c.61+60G>C
ENST00000379044.4:c.1448+60G>C ENSP00000368332.4:n.1448+60G>C
NM_139058.2:c.1448+60G>C NP_620689.1:n.1448+60G>C
NM_139058.3:c.1448+60G>C MANE Select NP_620689.1:n.1448+60G>C
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