Canonical Allele Identifier: CA10550417

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 458640
• ClinVar RCV Id: RCV000544959 ; RCV002431553 ; RCV003128625
• dbSNP Id: rs368462762
• ExAC: X:153009152 C / T
• gnomAD v2: X-153009152-C-T
• gnomAD v3: X-153743698-C-T
• gnomAD v4: X-153743698-C-T
• MyVariant Identifiers: chrX:g.153009152C>T (hg19) ; chrX:g.153743698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743698C>T , CM000685.2:g.153743698C>T	GRCh38
NC_000023.10:g.153009152C>T , CM000685.1:g.153009152C>T	GRCh37
NC_000023.9:g.152662346C>T	NCBI36
NG_009022.2:g.23831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.2201C>T MANE Select	ENSP00000218104.3:p.Pro734Leu
ENST00000218104.5:c.2201C>T	ENSP00000218104.3:p.Pro734Leu
NM_000033.3:c.2201C>T	NP_000024.2:p.Pro734Leu
XR_938507.1:n.2673C>T
XR_938507.2:n.2673C>T
NM_000033.4:c.2201C>T MANE Select	NP_000024.2:p.Pro734Leu