Canonical Allele Identifier: CA415099044
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.152991250C>G (hg19) chrX:g.153725795C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725795C>G , CM000685.2:g.153725795C>G GRCh38
NC_000023.10:g.152991250C>G , CM000685.1:g.152991250C>G GRCh37
NC_000023.9:g.152644444C>G NCBI36
NG_009022.2:g.5928C>G
NG_023231.1:g.3952G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.529C>G MANE Select ENSP00000218104.3:p.Gln177Glu
ENST00000218104.5:c.529C>G ENSP00000218104.3:p.Gln177Glu
NM_000033.3:c.529C>G NP_000024.2:p.Gln177Glu
XR_938507.1:n.945C>G
XR_938507.2:n.945C>G
NM_000033.4:c.529C>G MANE Select NP_000024.2:p.Gln177Glu
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