Canonical Allele Identifier: CA2579730037
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737094C>A , CM000685.2:g.153737094C>A GRCh38
NC_000023.10:g.153002548C>A , CM000685.1:g.153002548C>A GRCh37
NC_000023.9:g.152655742C>A NCBI36
NG_009022.2:g.17227C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1394-63C>A MANE Select ENSP00000218104.3:n.1394-63C>A
ENST00000218104.5:c.1394-63C>A ENSP00000218104.3:n.1394-63C>A
ENST00000443684.2:n.397-63C>A
NM_000033.3:c.1394-63C>A NP_000024.2:n.1394-63C>A
XR_938507.1:n.1866-63C>A
XR_938507.2:n.1866-63C>A
NM_000033.4:c.1394-63C>A MANE Select NP_000024.2:n.1394-63C>A
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