Canonical Allele Identifier: CA2579730005
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2878846
ClinVar RCV Id: RCV003624039
gnomAD v4: X-153736274-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736274A>C , CM000685.2:g.153736274A>C GRCh38
NC_000023.10:g.153001728A>C , CM000685.1:g.153001728A>C GRCh37
NC_000023.9:g.152654922A>C NCBI36
NG_009022.2:g.16407A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1224+20A>C MANE Select ENSP00000218104.3:n.1224+20A>C
ENST00000218104.5:c.1224+20A>C ENSP00000218104.3:n.1224+20A>C
ENST00000443684.2:n.227+20A>C
NM_000033.3:c.1224+20A>C NP_000024.2:n.1224+20A>C
XR_938507.1:n.1640+20A>C
XR_938507.2:n.1640+20A>C
NM_000033.4:c.1224+20A>C MANE Select NP_000024.2:n.1224+20A>C
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