Canonical Allele Identifier: CA2420208065
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048697238
gnomAD v4: X-25010368-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010368T>G , CM000685.2:g.25010368T>G GRCh38
NC_000023.10:g.25028485T>G , CM000685.1:g.25028485T>G GRCh37
NC_000023.9:g.24938406T>G NCBI36
NG_008281.1:g.10581A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1074-63A>C MANE Select ENSP00000368332.4:n.1074-63A>C
ENST00000379044.4:c.1074-63A>C ENSP00000368332.4:n.1074-63A>C
NM_139058.2:c.1074-63A>C NP_620689.1:n.1074-63A>C
NM_139058.3:c.1074-63A>C MANE Select NP_620689.1:n.1074-63A>C
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