Canonical Allele Identifier: CA415105348

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 1521170
• ClinVar RCV Id: RCV002027810 ; RCV003138059
• dbSNP Id: rs2148395465
• gnomAD v4: X-153736214-C-T
• COSMIC: COSM4107811
• MyVariant Identifiers: chrX:g.153001668C>T (hg19) ; chrX:g.153736214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153736214C>T , CM000685.2:g.153736214C>T	GRCh38
NC_000023.10:g.153001668C>T , CM000685.1:g.153001668C>T	GRCh37
NC_000023.9:g.152654862C>T	NCBI36
NG_009022.2:g.16347C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1184C>T MANE Select	ENSP00000218104.3:p.Ala395Val
ENST00000218104.5:c.1184C>T	ENSP00000218104.3:p.Ala395Val
ENST00000443684.2:n.187C>T
NM_000033.3:c.1184C>T	NP_000024.2:p.Ala395Val
XR_938507.1:n.1600C>T
XR_938507.2:n.1600C>T
NM_000033.4:c.1184C>T MANE Select	NP_000024.2:p.Ala395Val