Canonical Allele Identifier: CA415106925
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2711556
ClinVar RCV Id: RCV003513099
dbSNP Id: rs782419455
gnomAD v2: X-153001900-C-G
MyVariant Identifiers: chrX:g.153001900C>G (hg19) chrX:g.153736446C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736446C>G , CM000685.2:g.153736446C>G GRCh38
NC_000023.10:g.153001900C>G , CM000685.1:g.153001900C>G GRCh37
NC_000023.9:g.152655094C>G NCBI36
NG_009022.2:g.16579C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1326C>G MANE Select ENSP00000218104.3:p.Asp442Glu
ENST00000218104.5:c.1326C>G ENSP00000218104.3:p.Asp442Glu
ENST00000443684.2:n.329C>G
NM_000033.3:c.1326C>G NP_000024.2:p.Asp442Glu
XR_938507.1:n.1742C>G
XR_938507.2:n.1742C>G
NM_000033.4:c.1326C>G MANE Select NP_000024.2:p.Asp442Glu
Search 100 bp 5'
Search 100 bp 3'