Canonical Allele Identifier: CA10550244

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 496873
• ClinVar RCV Id: RCV001800816
• dbSNP Id: rs149185761
• ExAC: X:153005522 C / G
• gnomAD v2: X-153005522-C-G
• gnomAD v3: X-153740068-C-G
• gnomAD v4: X-153740068-C-G
• MyVariant Identifiers: chrX:g.153005522C>G (hg19) ; chrX:g.153740068C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740068C>G , CM000685.2:g.153740068C>G	GRCh38
NC_000023.10:g.153005522C>G , CM000685.1:g.153005522C>G	GRCh37
NC_000023.9:g.152658716C>G	NCBI36
NG_009022.2:g.20201C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.1489-24C>G MANE Select	ENSP00000218104.3:n.1489-24C>G
ENST00000218104.5:c.1489-24C>G	ENSP00000218104.3:n.1489-24C>G
ENST00000443684.2:n.492-24C>G
NM_000033.3:c.1489-24C>G	NP_000024.2:n.1489-24C>G
XR_938507.1:n.1961-24C>G
XR_938507.2:n.1961-24C>G
NM_000033.4:c.1489-24C>G MANE Select	NP_000024.2:n.1489-24C>G