Canonical Allele Identifier: CA415116639
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503797
ClinVar RCV Id: RCV003230788
MyVariant Identifiers: chrX:g.153008684C>A (hg19) chrX:g.153743230C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743230C>A , CM000685.2:g.153743230C>A GRCh38
NC_000023.10:g.153008684C>A , CM000685.1:g.153008684C>A GRCh37
NC_000023.9:g.152661878C>A NCBI36
NG_009022.2:g.23363C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1875C>A MANE Select ENSP00000218104.3:p.Tyr625Ter
ENST00000218104.5:c.1875C>A ENSP00000218104.3:p.Tyr625Ter
NM_000033.3:c.1875C>A NP_000024.2:p.Tyr625Ter
XR_938507.1:n.2347C>A
XR_938507.2:n.2347C>A
NM_000033.4:c.1875C>A MANE Select NP_000024.2:p.Tyr625Ter
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