Canonical Allele Identifier: CA2573332971
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3020310
ClinVar RCV Id: RCV003877485
dbSNP Id: rs2148395353
gnomAD v3: X-153736105-T-G
gnomAD v4: X-153736105-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736105T>G , CM000685.2:g.153736105T>G GRCh38
NC_000023.10:g.153001559T>G , CM000685.1:g.153001559T>G GRCh37
NC_000023.9:g.152654753T>G NCBI36
NG_009022.2:g.16238T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1082-7T>G MANE Select ENSP00000218104.3:n.1082-7T>G
ENST00000218104.5:c.1082-7T>G ENSP00000218104.3:n.1082-7T>G
ENST00000443684.2:n.85-7T>G
NM_000033.3:c.1082-7T>G NP_000024.2:n.1082-7T>G
XR_938507.1:n.1498-7T>G
XR_938507.2:n.1498-7T>G
NM_000033.4:c.1082-7T>G MANE Select NP_000024.2:n.1082-7T>G
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