Canonical Allele Identifier: CA278117

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 11313
• ClinVar RCV Id: RCV000012065 ; RCV001093003
• dbSNP Id: rs4010613
• gnomAD v4: X-153743055-C-T
• MyVariant Identifiers: chrX:g.153008509C>T (hg19) ; chrX:g.153743055C>T (hg38)
• PubMed: PMID:8040304

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743055C>T , CM000685.2:g.153743055C>T	GRCh38
NC_000023.10:g.153008509C>T , CM000685.1:g.153008509C>T	GRCh37
NC_000023.9:g.152661703C>T	NCBI36
NG_009022.2:g.23188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1849C>T MANE Select	ENSP00000218104.3:p.Arg617Cys
ENST00000218104.5:c.1849C>T	ENSP00000218104.3:p.Arg617Cys
NM_000033.3:c.1849C>T	NP_000024.2:p.Arg617Cys
XR_938507.1:n.2321C>T
XR_938507.2:n.2321C>T
NM_000033.4:c.1849C>T MANE Select	NP_000024.2:p.Arg617Cys