Canonical Allele Identifier: CA249353

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 218421
• ClinVar RCV Id: RCV000203152 ; RCV000608121 ; RCV002311312
• dbSNP Id: rs79383557
• ExAC: X:153006141 T / A
• gnomAD v2: X-153006141-T-A
• MyVariant Identifiers: chrX:g.153006141T>A (hg19) ; chrX:g.153740687T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740687T>A , CM000685.2:g.153740687T>A	GRCh38
NC_000023.10:g.153006141T>A , CM000685.1:g.153006141T>A	GRCh37
NC_000023.9:g.152659335T>A	NCBI36
NG_009022.2:g.20820T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.1748T>A MANE Select	ENSP00000218104.3:p.Val583Glu
ENST00000218104.5:c.1748T>A	ENSP00000218104.3:p.Val583Glu
NM_000033.3:c.1748T>A	NP_000024.2:p.Val583Glu
XR_938507.1:n.2220T>A
XR_938507.2:n.2220T>A
NM_000033.4:c.1748T>A MANE Select	NP_000024.2:p.Val583Glu