Canonical Allele Identifier: CA278381

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 35642
• ClinVar RCV Id: RCV000029289 ; RCV000723567
• dbSNP Id: rs193922097
• COSMIC: COSM1117468
• MyVariant Identifiers: chrX:g.152991142G>A (hg19) ; chrX:g.153725687G>A (hg38)
• PubMed: PMID:7581394 ; PMID:17504626 ; PMID:21068741 ; PMID:21300044

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153725687G>A , CM000685.2:g.153725687G>A	GRCh38
NC_000023.10:g.152991142G>A , CM000685.1:g.152991142G>A	GRCh37
NC_000023.9:g.152644336G>A	NCBI36
NG_009022.2:g.5820G>A
NG_023231.1:g.4060C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.421G>A MANE Select	ENSP00000218104.3:p.Ala141Thr
ENST00000218104.5:c.421G>A	ENSP00000218104.3:p.Ala141Thr
NM_000033.3:c.421G>A	NP_000024.2:p.Ala141Thr
XR_938507.1:n.837G>A
XR_938507.2:n.837G>A
NM_000033.4:c.421G>A MANE Select	NP_000024.2:p.Ala141Thr