Canonical Allele Identifier: CA10550141

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 1170173
• ClinVar RCV Id: RCV001522279
• dbSNP Id: rs781928741
• ExAC: X:153001609 G / A
• gnomAD v2: X-153001609-G-A
• gnomAD v4: X-153736155-G-A
• MyVariant Identifiers: chrX:g.153001609G>A (hg19) ; chrX:g.153736155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153736155G>A , CM000685.2:g.153736155G>A	GRCh38
NC_000023.10:g.153001609G>A , CM000685.1:g.153001609G>A	GRCh37
NC_000023.9:g.152654803G>A	NCBI36
NG_009022.2:g.16288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1125G>A MANE Select	ENSP00000218104.3:p.Glu375=
ENST00000218104.5:c.1125G>A	ENSP00000218104.3:p.Glu375=
ENST00000443684.2:n.128G>A
NM_000033.3:c.1125G>A	NP_000024.2:p.Glu375=
XR_938507.1:n.1541G>A
XR_938507.2:n.1541G>A
NM_000033.4:c.1125G>A MANE Select	NP_000024.2:p.Glu375=