Canonical Allele Identifier: CA10550021

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 384589
• ClinVar RCV Id: RCV000434855 ; RCV000507685 ; RCV000695726 ; RCV002411343 ; RCV003902547
• dbSNP Id: rs782083931
• ExAC: X:152991544 C / T
• gnomAD v2: X-152991544-C-T
• gnomAD v4: X-153726089-C-T
• MyVariant Identifiers: chrX:g.152991544C>T (hg19) ; chrX:g.153726089C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153726089C>T , CM000685.2:g.153726089C>T	GRCh38
NC_000023.10:g.152991544C>T , CM000685.1:g.152991544C>T	GRCh37
NC_000023.9:g.152644738C>T	NCBI36
NG_009022.2:g.6222C>T
NG_023231.1:g.3658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.823C>T MANE Select	ENSP00000218104.3:p.Arg275Trp
ENST00000218104.5:c.823C>T	ENSP00000218104.3:p.Arg275Trp
ENST00000370129.4:c.268C>T	ENSP00000359147.3:p.Arg90Trp
NM_000033.3:c.823C>T	NP_000024.2:p.Arg275Trp
XR_938507.1:n.1239C>T
XR_938507.2:n.1239C>T
NM_000033.4:c.823C>T MANE Select	NP_000024.2:p.Arg275Trp