Canonical Allele Identifier: CA415112621

Gene: ABCD1

Linked Data

• MyVariant Identifiers: chrX:g.153006066T>A (hg19) ; chrX:g.153740612T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740612T>A , CM000685.2:g.153740612T>A	GRCh38
NC_000023.10:g.153006066T>A , CM000685.1:g.153006066T>A	GRCh37
NC_000023.9:g.152659260T>A	NCBI36
NG_009022.2:g.20745T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1673T>A MANE Select	ENSP00000218104.3:p.Ile558Asn
ENST00000218104.5:c.1673T>A	ENSP00000218104.3:p.Ile558Asn
NM_000033.3:c.1673T>A	NP_000024.2:p.Ile558Asn
XR_938507.1:n.2145T>A
XR_938507.2:n.2145T>A
NM_000033.4:c.1673T>A MANE Select	NP_000024.2:p.Ile558Asn