Canonical Allele Identifier: CA249150

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 218420
• ClinVar RCV Id: RCV000202951 ; RCV000602068 ; RCV002311311 ; RCV003977553 ; RCV000675195
• dbSNP Id: rs76180859
• ExAC: X:153006137 G / A
• gnomAD v2: X-153006137-G-A
• gnomAD v3: X-153740683-G-A
• gnomAD v4: X-153740683-G-A
• MyVariant Identifiers: chrX:g.153006137G>A (hg19) ; chrX:g.153740683G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740683G>A , CM000685.2:g.153740683G>A	GRCh38
NC_000023.10:g.153006137G>A , CM000685.1:g.153006137G>A	GRCh37
NC_000023.9:g.152659331G>A	NCBI36
NG_009022.2:g.20816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1744G>A MANE Select	ENSP00000218104.3:p.Val582Ile
ENST00000218104.5:c.1744G>A	ENSP00000218104.3:p.Val582Ile
NM_000033.3:c.1744G>A	NP_000024.2:p.Val582Ile
XR_938507.1:n.2216G>A
XR_938507.2:n.2216G>A
NM_000033.4:c.1744G>A MANE Select	NP_000024.2:p.Val582Ile