Canonical Allele Identifier: CA337241902
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 558771
ClinVar RCV Id: RCV000675194 RCV001087253
dbSNP Id: rs199997983
gnomAD v2: X-153006076-C-T
MyVariant Identifiers: chrX:g.153006076C>T (hg19) chrX:g.153740622C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740622C>T , CM000685.2:g.153740622C>T GRCh38
NC_000023.10:g.153006076C>T , CM000685.1:g.153006076C>T GRCh37
NC_000023.9:g.152659270C>T NCBI36
NG_009022.2:g.20755C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1683C>T MANE Select ENSP00000218104.3:p.Asp561=
ENST00000218104.5:c.1683C>T ENSP00000218104.3:p.Asp561=
NM_000033.3:c.1683C>T NP_000024.2:p.Asp561=
XR_938507.1:n.2155C>T
XR_938507.2:n.2155C>T
NM_000033.4:c.1683C>T MANE Select NP_000024.2:p.Asp561=
Search 100 bp 5'
Search 100 bp 3'