Canonical Allele Identifier: CA10604122

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 282253
• ClinVar RCV Id: RCV000488080 ; RCV000633484 ; RCV003401238
• dbSNP Id: rs782041940
• gnomAD v4: X-153743255-G-A
• MyVariant Identifiers: chrX:g.153008709G>A (hg19) ; chrX:g.153743255G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743255G>A , CM000685.2:g.153743255G>A	GRCh38
NC_000023.10:g.153008709G>A , CM000685.1:g.153008709G>A	GRCh37
NC_000023.9:g.152661903G>A	NCBI36
NG_009022.2:g.23388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1900G>A MANE Select	ENSP00000218104.3:p.Ala634Thr
ENST00000218104.5:c.1900G>A	ENSP00000218104.3:p.Ala634Thr
NM_000033.3:c.1900G>A	NP_000024.2:p.Ala634Thr
XR_938507.1:n.2372G>A
XR_938507.2:n.2372G>A
NM_000033.4:c.1900G>A MANE Select	NP_000024.2:p.Ala634Thr