Canonical Allele Identifier: CA2466455185
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs2091750742
gnomAD v4: X-153736533-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736533A>G , CM000685.2:g.153736533A>G GRCh38
NC_000023.10:g.153001987A>G , CM000685.1:g.153001987A>G GRCh37
NC_000023.9:g.152655181A>G NCBI36
NG_009022.2:g.16666A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1393+20A>G MANE Select ENSP00000218104.3:n.1393+20A>G
ENST00000218104.5:c.1393+20A>G ENSP00000218104.3:n.1393+20A>G
ENST00000443684.2:n.396+20A>G
NM_000033.3:c.1393+20A>G NP_000024.2:n.1393+20A>G
XR_938507.1:n.1809+20A>G
XR_938507.2:n.1809+20A>G
NM_000033.4:c.1393+20A>G MANE Select NP_000024.2:n.1393+20A>G
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