Canonical Allele Identifier: CA658659057
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 458647
ClinVar RCV Id: RCV000551222
dbSNP Id: rs1557052397
MyVariant Identifiers: chrX:g.152991258_152991265dup (hg19) chrX:g.153725803_153725810dup (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725803_153725810dup , CM000685.2:g.153725803_153725810dup GRCh38
NC_000023.10:g.152991258_152991265dup , CM000685.1:g.152991258_152991265dup GRCh37
NC_000023.9:g.152644452_152644459dup NCBI36
NG_009022.2:g.5936_5943dup
NG_023231.1:g.3938_3945dup

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.537_544dup MANE Select ENSP00000218104.3:p.Arg182ProfsTer19
ENST00000218104.5:c.537_544dup ENSP00000218104.3:p.Arg182ProfsTer19
NM_000033.3:c.537_544dup NP_000024.2:p.Arg182ProfsTer19
XR_938507.1:n.953_960dup
XR_938507.2:n.953_960dup
NM_000033.4:c.537_544dup MANE Select NP_000024.2:p.Arg182ProfsTer19
Search 100 bp 5'
Search 100 bp 3'