Canonical Allele Identifier: CA337242826

Gene: ABCD1

Linked Data

• dbSNP Id: rs201427153
• gnomAD: X:153008712 G / A
• COSMIC: COSM4594986
• MyVariant Identifiers: chrX:g.153008712G>A (hg19) ; chrX:g.153743258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743258G>A , CM000685.2:g.153743258G>A	GRCh38
NC_000023.10:g.153008712G>A , CM000685.1:g.153008712G>A	GRCh37
NC_000023.9:g.152661906G>A	NCBI36
NG_009022.2:g.23391G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.1903G>A MANE Select	ENSP00000218104.3:p.Val635Met
ENST00000218104.5:c.1903G>A	ENSP00000218104.3:p.Val635Met
NM_000033.3:c.1903G>A	NP_000024.2:p.Val635Met
XR_938507.1:n.2375G>A
XR_938507.2:n.2375G>A
NM_000033.4:c.1903G>A MANE Select	NP_000024.2:p.Val635Met