Canonical Allele Identifier: CA519218221
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1113831
ClinVar RCV Id: RCV001441362
dbSNP Id: rs1557054320
gnomAD v2: X-153002657-C-A
gnomAD v4: X-153737203-C-A
MyVariant Identifiers: chrX:g.153002657C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737203C>A , CM000685.2:g.153737203C>A GRCh38
NC_000023.10:g.153002657C>A , CM000685.1:g.153002657C>A GRCh37
NC_000023.9:g.152655851C>A NCBI36
NG_009022.2:g.17336C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1440C>A MANE Select ENSP00000218104.3:p.Pro480=
ENST00000218104.5:c.1440C>A ENSP00000218104.3:p.Pro480=
ENST00000443684.2:n.443C>A
NM_000033.3:c.1440C>A NP_000024.2:p.Pro480=
XR_938507.1:n.1912C>A
XR_938507.2:n.1912C>A
NM_000033.4:c.1440C>A MANE Select NP_000024.2:p.Pro480=
Search 100 bp 5'
Search 100 bp 3'