Canonical Allele Identifier: CA415099045
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 859830
ClinVar RCV Id: RCV001066031
dbSNP Id: rs2091708007
MyVariant Identifiers: chrX:g.152991251A>T (hg19) chrX:g.153725796A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725796A>T , CM000685.2:g.153725796A>T GRCh38
NC_000023.10:g.152991251A>T , CM000685.1:g.152991251A>T GRCh37
NC_000023.9:g.152644445A>T NCBI36
NG_009022.2:g.5929A>T
NG_023231.1:g.3951T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.530A>T MANE Select ENSP00000218104.3:p.Gln177Leu
ENST00000218104.5:c.530A>T ENSP00000218104.3:p.Gln177Leu
NM_000033.3:c.530A>T NP_000024.2:p.Gln177Leu
XR_938507.1:n.946A>T
XR_938507.2:n.946A>T
NM_000033.4:c.530A>T MANE Select NP_000024.2:p.Gln177Leu
Search 100 bp 5'
Search 100 bp 3'