Canonical Allele Identifier: CA415112395
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153006042T>A (hg19) chrX:g.153740588T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740588T>A , CM000685.2:g.153740588T>A GRCh38
NC_000023.10:g.153006042T>A , CM000685.1:g.153006042T>A GRCh37
NC_000023.9:g.152659236T>A NCBI36
NG_009022.2:g.20721T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1649T>A MANE Select ENSP00000218104.3:p.Val550Glu
ENST00000218104.5:c.1649T>A ENSP00000218104.3:p.Val550Glu
ENST00000443684.2:n.652T>A
NM_000033.3:c.1649T>A NP_000024.2:p.Val550Glu
XR_938507.1:n.2121T>A
XR_938507.2:n.2121T>A
NM_000033.4:c.1649T>A MANE Select NP_000024.2:p.Val550Glu
Search 100 bp 5'
Search 100 bp 3'