×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA16608407
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383533
ClinVar RCV Id:
RCV000442107
RCV000779752
RCV000990555
RCV001372869
dbSNP Id:
rs104894746
MyVariant Identifiers:
chrX:g.25028391C>T (hg19)
chrX:g.25010274C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010274C>T , CM000685.2:g.25010274C>T
GRCh38
NC_000023.10:g.25028391C>T , CM000685.1:g.25028391C>T
GRCh37
NC_000023.9:g.24938312C>T
NCBI36
NG_008281.1:g.10675G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1105G>A
MANE Select
ENSP00000368332.4:p.Glu369Lys
ENST00000379044.4:c.1105G>A
ENSP00000368332.4:p.Glu369Lys
NM_139058.2:c.1105G>A
NP_620689.1:p.Glu369Lys
NM_139058.3:c.1105G>A
MANE Select
NP_620689.1:p.Glu369Lys
Search 100 bp 5'
Search 100 bp 3'