Canonical Allele Identifier: CA247932
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198983
ClinVar RCV Id: RCV000180454
dbSNP Id: rs797044790
MyVariant Identifiers: chrX:g.153008764T>A (hg19) chrX:g.153743310T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743310T>A , CM000685.2:g.153743310T>A GRCh38
NC_000023.10:g.153008764T>A , CM000685.1:g.153008764T>A GRCh37
NC_000023.9:g.152661958T>A NCBI36
NG_009022.2:g.23443T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1955T>A MANE Select ENSP00000218104.3:p.Ile652Asn
ENST00000218104.5:c.1955T>A ENSP00000218104.3:p.Ile652Asn
NM_000033.3:c.1955T>A NP_000024.2:p.Ile652Asn
XR_938507.1:n.2427T>A
XR_938507.2:n.2427T>A
NM_000033.4:c.1955T>A MANE Select NP_000024.2:p.Ile652Asn
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Search 100 bp 3'