Canonical Allele Identifier: CA415104554
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153001585G>C (hg19) chrX:g.153736131G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736131G>C , CM000685.2:g.153736131G>C GRCh38
NC_000023.10:g.153001585G>C , CM000685.1:g.153001585G>C GRCh37
NC_000023.9:g.152654779G>C NCBI36
NG_009022.2:g.16264G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1101G>C MANE Select ENSP00000218104.3:p.Lys367Asn
ENST00000218104.5:c.1101G>C ENSP00000218104.3:p.Lys367Asn
ENST00000443684.2:n.104G>C
NM_000033.3:c.1101G>C NP_000024.2:p.Lys367Asn
XR_938507.1:n.1517G>C
XR_938507.2:n.1517G>C
NM_000033.4:c.1101G>C MANE Select NP_000024.2:p.Lys367Asn
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