×
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:
CA278401
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92314
ClinVar RCV Id:
RCV000077950
RCV001063464
dbSNP Id:
rs398123100
MyVariant Identifiers:
chrX:g.153002613C>T (hg19)
chrX:g.153737159C>T (hg38)
PubMed:
PMID:23891399
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.153737159C>T , CM000685.2:g.153737159C>T
GRCh38
NC_000023.10:g.153002613C>T , CM000685.1:g.153002613C>T
GRCh37
NC_000023.9:g.152655807C>T
NCBI36
NG_009022.2:g.17292C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000218104.6:c.1396C>T
MANE Select
ENSP00000218104.3:p.Gln466Ter
ENST00000218104.5:c.1396C>T
ENSP00000218104.3:p.Gln466Ter
ENST00000443684.2:n.399C>T
NM_000033.3:c.1396C>T
NP_000024.2:p.Gln466Ter
XR_938507.1:n.1868C>T
XR_938507.2:n.1868C>T
NM_000033.4:c.1396C>T
MANE Select
NP_000024.2:p.Gln466Ter
Search 100 bp 5'
Search 100 bp 3'