Canonical Allele Identifier: CA415117047
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153008725T>G (hg19) chrX:g.153743271T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743271T>G , CM000685.2:g.153743271T>G GRCh38
NC_000023.10:g.153008725T>G , CM000685.1:g.153008725T>G GRCh37
NC_000023.9:g.152661919T>G NCBI36
NG_009022.2:g.23404T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1916T>G MANE Select ENSP00000218104.3:p.Val639Gly
ENST00000218104.5:c.1916T>G ENSP00000218104.3:p.Val639Gly
NM_000033.3:c.1916T>G NP_000024.2:p.Val639Gly
XR_938507.1:n.2388T>G
XR_938507.2:n.2388T>G
NM_000033.4:c.1916T>G MANE Select NP_000024.2:p.Val639Gly
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