Canonical Allele Identifier: CA1138520099
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs2091751560
gnomAD v3: X-153736782-G-A
gnomAD v4: X-153736782-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736782G>A , CM000685.2:g.153736782G>A GRCh38
NC_000023.10:g.153002236G>A , CM000685.1:g.153002236G>A GRCh37
NC_000023.9:g.152655430G>A NCBI36
NG_009022.2:g.16915G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1393+269G>A MANE Select ENSP00000218104.3:n.1393+269G>A
ENST00000218104.5:c.1393+269G>A ENSP00000218104.3:n.1393+269G>A
ENST00000443684.2:n.396+269G>A
NM_000033.3:c.1393+269G>A NP_000024.2:n.1393+269G>A
XR_938507.1:n.1810-74G>A
XR_938507.2:n.1810-74G>A
NM_000033.4:c.1393+269G>A MANE Select NP_000024.2:n.1393+269G>A
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