Canonical Allele Identifier: CA415108405
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153002652A>C (hg19) chrX:g.153737198A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737198A>C , CM000685.2:g.153737198A>C GRCh38
NC_000023.10:g.153002652A>C , CM000685.1:g.153002652A>C GRCh37
NC_000023.9:g.152655846A>C NCBI36
NG_009022.2:g.17331A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1435A>C MANE Select ENSP00000218104.3:p.Ile479Leu
ENST00000218104.5:c.1435A>C ENSP00000218104.3:p.Ile479Leu
ENST00000443684.2:n.438A>C
NM_000033.3:c.1435A>C NP_000024.2:p.Ile479Leu
XR_938507.1:n.1907A>C
XR_938507.2:n.1907A>C
NM_000033.4:c.1435A>C MANE Select NP_000024.2:p.Ile479Leu
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