Canonical Allele Identifier: CA2573159312
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1622233
ClinVar RCV Id: RCV002094505
dbSNP Id: rs2148395341
gnomAD v4: X-153736099-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736099T>C , CM000685.2:g.153736099T>C GRCh38
NC_000023.10:g.153001553T>C , CM000685.1:g.153001553T>C GRCh37
NC_000023.9:g.152654747T>C NCBI36
NG_009022.2:g.16232T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1082-13T>C MANE Select ENSP00000218104.3:n.1082-13T>C
ENST00000218104.5:c.1082-13T>C ENSP00000218104.3:n.1082-13T>C
ENST00000443684.2:n.85-13T>C
NM_000033.3:c.1082-13T>C NP_000024.2:n.1082-13T>C
XR_938507.1:n.1498-13T>C
XR_938507.2:n.1498-13T>C
NM_000033.4:c.1082-13T>C MANE Select NP_000024.2:n.1082-13T>C
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