Canonical Allele Identifier: CA10550254

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 458633
• ClinVar RCV Id: RCV000534849 ; RCV003488661 ; RCV002395316
• dbSNP Id: rs782158792
• ExAC: X:153005583 A / G
• gnomAD v2: X-153005583-A-G
• gnomAD v3: X-153740129-A-G
• gnomAD v4: X-153740129-A-G
• COSMIC: COSM755756 ; COSM5616259
• MyVariant Identifiers: chrX:g.153005583A>G (hg19) ; chrX:g.153740129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740129A>G , CM000685.2:g.153740129A>G	GRCh38
NC_000023.10:g.153005583A>G , CM000685.1:g.153005583A>G	GRCh37
NC_000023.9:g.152658777A>G	NCBI36
NG_009022.2:g.20262A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1526A>G MANE Select	ENSP00000218104.3:p.Asn509Ser
ENST00000218104.5:c.1526A>G	ENSP00000218104.3:p.Asn509Ser
ENST00000443684.2:n.529A>G
NM_000033.3:c.1526A>G	NP_000024.2:p.Asn509Ser
XR_938507.1:n.1998A>G
XR_938507.2:n.1998A>G
NM_000033.4:c.1526A>G MANE Select	NP_000024.2:p.Asn509Ser