Canonical Allele Identifier: CA2824272843
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736837G>A , CM000685.2:g.153736837G>A GRCh38
NC_000023.10:g.153002291G>A , CM000685.1:g.153002291G>A GRCh37
NC_000023.9:g.152655485G>A NCBI36
NG_009022.2:g.16970G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1394-320G>A MANE Select ENSP00000218104.3:n.1394-320G>A
ENST00000218104.5:c.1394-320G>A ENSP00000218104.3:n.1394-320G>A
ENST00000443684.2:n.397-320G>A
NM_000033.3:c.1394-320G>A NP_000024.2:n.1394-320G>A
XR_938507.1:n.1810-19G>A
XR_938507.2:n.1810-19G>A
NM_000033.4:c.1394-320G>A MANE Select NP_000024.2:n.1394-320G>A
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