Canonical Allele Identifier: CA415108370
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2747241
ClinVar RCV Id: RCV003511632
MyVariant Identifiers: chrX:g.153002649A>T (hg19) chrX:g.153737195A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737195A>T , CM000685.2:g.153737195A>T GRCh38
NC_000023.10:g.153002649A>T , CM000685.1:g.153002649A>T GRCh37
NC_000023.9:g.152655843A>T NCBI36
NG_009022.2:g.17328A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1432A>T MANE Select ENSP00000218104.3:p.Asn478Tyr
ENST00000218104.5:c.1432A>T ENSP00000218104.3:p.Asn478Tyr
ENST00000443684.2:n.435A>T
NM_000033.3:c.1432A>T NP_000024.2:p.Asn478Tyr
XR_938507.1:n.1904A>T
XR_938507.2:n.1904A>T
NM_000033.4:c.1432A>T MANE Select NP_000024.2:p.Asn478Tyr
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