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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
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Canonical Allele Identifier:
CA278516
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198687
ClinVar RCV Id:
RCV000180095
dbSNP Id:
rs797044781
MyVariant Identifiers:
chrX:g.153008440G>A (hg19)
chrX:g.153742986G>A (hg38)
PubMed:
PMID:23891399
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.153742986G>A , CM000685.2:g.153742986G>A
GRCh38
NC_000023.10:g.153008440G>A , CM000685.1:g.153008440G>A
GRCh37
NC_000023.9:g.152661634G>A
NCBI36
NG_009022.2:g.23119G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000218104.6:c.1781-1G>A
MANE Select
ENSP00000218104.3:n.1781-1G>A
ENST00000218104.5:c.1781-1G>A
ENSP00000218104.3:n.1781-1G>A
NM_000033.3:c.1781-1G>A
NP_000024.2:n.1781-1G>A
XR_938507.1:n.2253-1G>A
XR_938507.2:n.2253-1G>A
NM_000033.4:c.1781-1G>A
MANE Select
NP_000024.2:n.1781-1G>A
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