Canonical Allele Identifier: CA415113345

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 458635
• ClinVar RCV Id: RCV000538578 ; RCV000675196 ; RCV002528315 ; RCV004541648
• dbSNP Id: rs1557054873
• gnomAD v4: X-153740711-G-A
• MyVariant Identifiers: chrX:g.153006165G>A (hg19) ; chrX:g.153740711G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740711G>A , CM000685.2:g.153740711G>A	GRCh38
NC_000023.10:g.153006165G>A , CM000685.1:g.153006165G>A	GRCh37
NC_000023.9:g.152659359G>A	NCBI36
NG_009022.2:g.20844G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1772G>A MANE Select	ENSP00000218104.3:p.Arg591Gln
ENST00000218104.5:c.1772G>A	ENSP00000218104.3:p.Arg591Gln
NM_000033.3:c.1772G>A	NP_000024.2:p.Arg591Gln
XR_938507.1:n.2244G>A
XR_938507.2:n.2244G>A
NM_000033.4:c.1772G>A MANE Select	NP_000024.2:p.Arg591Gln