Canonical Allele Identifier: CA415105674
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 693988
ClinVar RCV Id: RCV000855404
dbSNP Id: rs1603234501
MyVariant Identifiers: chrX:g.153001703A>T (hg19) chrX:g.153736249A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736249A>T , CM000685.2:g.153736249A>T GRCh38
NC_000023.10:g.153001703A>T , CM000685.1:g.153001703A>T GRCh37
NC_000023.9:g.152654897A>T NCBI36
NG_009022.2:g.16382A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1219A>T MANE Select ENSP00000218104.3:p.Lys407Ter
ENST00000218104.5:c.1219A>T ENSP00000218104.3:p.Lys407Ter
ENST00000443684.2:n.222A>T
NM_000033.3:c.1219A>T NP_000024.2:p.Lys407Ter
XR_938507.1:n.1635A>T
XR_938507.2:n.1635A>T
NM_000033.4:c.1219A>T MANE Select NP_000024.2:p.Lys407Ter
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Search 100 bp 3'