Canonical Allele Identifier: CA278412

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 92323
• ClinVar RCV Id: RCV000077961 ; RCV000414732 ; RCV001000924 ; RCV000626568 ; RCV002408605
• dbSNP Id: rs398123108
• gnomAD v4: X-153743211-G-A
• MyVariant Identifiers: chrX:g.153008665G>A (hg19) ; chrX:g.153743211G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743211G>A , CM000685.2:g.153743211G>A	GRCh38
NC_000023.10:g.153008665G>A , CM000685.1:g.153008665G>A	GRCh37
NC_000023.9:g.152661859G>A	NCBI36
NG_009022.2:g.23344G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1866-10G>A MANE Select	ENSP00000218104.3:n.1866-10G>A
ENST00000218104.5:c.1866-10G>A	ENSP00000218104.3:n.1866-10G>A
NM_000033.3:c.1866-10G>A	NP_000024.2:n.1866-10G>A
XR_938507.1:n.2338-10G>A
XR_938507.2:n.2338-10G>A
NM_000033.4:c.1866-10G>A MANE Select	NP_000024.2:n.1866-10G>A