Canonical Allele Identifier: CA2695045225
Gene: ABCD1 HGNC NCBI

Linked Data

gnomAD v4: X-153736096-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736096C>G , CM000685.2:g.153736096C>G GRCh38
NC_000023.10:g.153001550C>G , CM000685.1:g.153001550C>G GRCh37
NC_000023.9:g.152654744C>G NCBI36
NG_009022.2:g.16229C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1082-16C>G MANE Select ENSP00000218104.3:n.1082-16C>G
ENST00000218104.5:c.1082-16C>G ENSP00000218104.3:n.1082-16C>G
ENST00000443684.2:n.85-16C>G
NM_000033.3:c.1082-16C>G NP_000024.2:n.1082-16C>G
XR_938507.1:n.1498-16C>G
XR_938507.2:n.1498-16C>G
NM_000033.4:c.1082-16C>G MANE Select NP_000024.2:n.1082-16C>G
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