Canonical Allele Identifier: CA2528694236
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736714G>A , CM000685.2:g.153736714G>A GRCh38
NC_000023.10:g.153002168G>A , CM000685.1:g.153002168G>A GRCh37
NC_000023.9:g.152655362G>A NCBI36
NG_009022.2:g.16847G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1393+201G>A MANE Select ENSP00000218104.3:n.1393+201G>A
ENST00000218104.5:c.1393+201G>A ENSP00000218104.3:n.1393+201G>A
ENST00000443684.2:n.396+201G>A
NM_000033.3:c.1393+201G>A NP_000024.2:n.1393+201G>A
XR_938507.1:n.1810-142G>A
XR_938507.2:n.1810-142G>A
NM_000033.4:c.1393+201G>A MANE Select NP_000024.2:n.1393+201G>A
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