Canonical Allele Identifier: CA415105280
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153001659T>G (hg19) chrX:g.153736205T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736205T>G , CM000685.2:g.153736205T>G GRCh38
NC_000023.10:g.153001659T>G , CM000685.1:g.153001659T>G GRCh37
NC_000023.9:g.152654853T>G NCBI36
NG_009022.2:g.16338T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1175T>G MANE Select ENSP00000218104.3:p.Leu392Arg
ENST00000218104.5:c.1175T>G ENSP00000218104.3:p.Leu392Arg
ENST00000443684.2:n.178T>G
NM_000033.3:c.1175T>G NP_000024.2:p.Leu392Arg
XR_938507.1:n.1591T>G
XR_938507.2:n.1591T>G
NM_000033.4:c.1175T>G MANE Select NP_000024.2:p.Leu392Arg
Search 100 bp 5'
Search 100 bp 3'