Canonical Allele Identifier: CA278382

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 35643
• ClinVar RCV Id: RCV000029290 ; RCV000721083 ; RCV001781320 ; RCV003407363
• dbSNP Id: rs193922098
• ExAC: X:152991559 C / T
• gnomAD v2: X-152991559-C-T
• gnomAD v4: X-153726104-C-T
• MyVariant Identifiers: chrX:g.152991559C>T (hg19) ; chrX:g.153726104C>T (hg38)
• PubMed: PMID:11748843 ; PMID:15811009

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153726104C>T , CM000685.2:g.153726104C>T	GRCh38
NC_000023.10:g.152991559C>T , CM000685.1:g.152991559C>T	GRCh37
NC_000023.9:g.152644753C>T	NCBI36
NG_009022.2:g.6237C>T
NG_023231.1:g.3643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.838C>T MANE Select	ENSP00000218104.3:p.Arg280Cys
ENST00000218104.5:c.838C>T	ENSP00000218104.3:p.Arg280Cys
ENST00000370129.4:c.283C>T	ENSP00000359147.3:p.Arg95Cys
NM_000033.3:c.838C>T	NP_000024.2:p.Arg280Cys
XR_938507.1:n.1254C>T
XR_938507.2:n.1254C>T
NM_000033.4:c.838C>T MANE Select	NP_000024.2:p.Arg280Cys