Canonical Allele Identifier: CA415117156
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2438765
ClinVar RCV Id: RCV003139517
MyVariant Identifiers: chrX:g.153008736A>T (hg19) chrX:g.153743282A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743282A>T , CM000685.2:g.153743282A>T GRCh38
NC_000023.10:g.153008736A>T , CM000685.1:g.153008736A>T GRCh37
NC_000023.9:g.152661930A>T NCBI36
NG_009022.2:g.23415A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1927A>T MANE Select ENSP00000218104.3:p.Ile643Phe
ENST00000218104.5:c.1927A>T ENSP00000218104.3:p.Ile643Phe
NM_000033.3:c.1927A>T NP_000024.2:p.Ile643Phe
XR_938507.1:n.2399A>T
XR_938507.2:n.2399A>T
NM_000033.4:c.1927A>T MANE Select NP_000024.2:p.Ile643Phe
Search 100 bp 5'
Search 100 bp 3'