Canonical Allele Identifier: CA1138519855
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs782786024
gnomAD v3: X-153736085-G-C
gnomAD v4: X-153736085-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736085G>C , CM000685.2:g.153736085G>C GRCh38
NC_000023.10:g.153001539G>C , CM000685.1:g.153001539G>C GRCh37
NC_000023.9:g.152654733G>C NCBI36
NG_009022.2:g.16218G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1082-27G>C MANE Select ENSP00000218104.3:n.1082-27G>C
ENST00000218104.5:c.1082-27G>C ENSP00000218104.3:n.1082-27G>C
ENST00000443684.2:n.85-27G>C
NM_000033.3:c.1082-27G>C NP_000024.2:n.1082-27G>C
XR_938507.1:n.1498-27G>C
XR_938507.2:n.1498-27G>C
NM_000033.4:c.1082-27G>C MANE Select NP_000024.2:n.1082-27G>C
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