Canonical Allele Identifier: CA415106533
Gene: ABCD1 HGNC NCBI

Linked Data

gnomAD v4: X-153736410-G-C
MyVariant Identifiers: chrX:g.153001864G>C (hg19) chrX:g.153736410G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736410G>C , CM000685.2:g.153736410G>C GRCh38
NC_000023.10:g.153001864G>C , CM000685.1:g.153001864G>C GRCh37
NC_000023.9:g.152655058G>C NCBI36
NG_009022.2:g.16543G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1290G>C MANE Select ENSP00000218104.3:p.Gln430His
ENST00000218104.5:c.1290G>C ENSP00000218104.3:p.Gln430His
ENST00000443684.2:n.293G>C
NM_000033.3:c.1290G>C NP_000024.2:p.Gln430His
XR_938507.1:n.1706G>C
XR_938507.2:n.1706G>C
NM_000033.4:c.1290G>C MANE Select NP_000024.2:p.Gln430His
Search 100 bp 5'
Search 100 bp 3'