Canonical Allele Identifier: CA10550266

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 790971
• ClinVar RCV Id: RCV000973857 ; RCV003432976
• dbSNP Id: rs782278443
• ExAC: X:153005686 G / A
• gnomAD v2: X-153005686-G-A
• gnomAD v3: X-153740232-G-A
• gnomAD v4: X-153740232-G-A
• MyVariant Identifiers: chrX:g.153005686G>A (hg19) ; chrX:g.153740232G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740232G>A , CM000685.2:g.153740232G>A	GRCh38
NC_000023.10:g.153005686G>A , CM000685.1:g.153005686G>A	GRCh37
NC_000023.9:g.152658880G>A	NCBI36
NG_009022.2:g.20365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1629G>A MANE Select	ENSP00000218104.3:p.Pro543=
ENST00000218104.5:c.1629G>A	ENSP00000218104.3:p.Pro543=
ENST00000443684.2:n.632G>A
NM_000033.3:c.1629G>A	NP_000024.2:p.Pro543=
XR_938507.1:n.2101G>A
XR_938507.2:n.2101G>A
NM_000033.4:c.1629G>A MANE Select	NP_000024.2:p.Pro543=