Canonical Allele Identifier: CA415099842

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 430026
• ClinVar RCV Id: RCV000493818 ; RCV000633477 ; RCV002395197 ; RCV003392323
• dbSNP Id: rs1131691743
• gnomAD v3: X-153726027-C-T
• gnomAD v4: X-153726027-C-T
• MyVariant Identifiers: chrX:g.152991482C>T (hg19) ; chrX:g.153726027C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153726027C>T , CM000685.2:g.153726027C>T	GRCh38
NC_000023.10:g.152991482C>T , CM000685.1:g.152991482C>T	GRCh37
NC_000023.9:g.152644676C>T	NCBI36
NG_009022.2:g.6160C>T
NG_023231.1:g.3720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.761C>T MANE Select	ENSP00000218104.3:p.Thr254Met
ENST00000218104.5:c.761C>T	ENSP00000218104.3:p.Thr254Met
ENST00000370129.4:c.206C>T	ENSP00000359147.3:p.Thr69Met
NM_000033.3:c.761C>T	NP_000024.2:p.Thr254Met
XR_938507.1:n.1177C>T
XR_938507.2:n.1177C>T
NM_000033.4:c.761C>T MANE Select	NP_000024.2:p.Thr254Met