Canonical Allele Identifier: CA415117457
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590225
ClinVar RCV Id: RCV001206153 RCV001772021 RCV002318878
dbSNP Id: rs1557055333
gnomAD v2: X-153008758-C-T
gnomAD v4: X-153743304-C-T
MyVariant Identifiers: chrX:g.153008758C>T (hg19) chrX:g.153743304C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743304C>T , CM000685.2:g.153743304C>T GRCh38
NC_000023.10:g.153008758C>T , CM000685.1:g.153008758C>T GRCh37
NC_000023.9:g.152661952C>T NCBI36
NG_009022.2:g.23437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1949C>T MANE Select ENSP00000218104.3:p.Ala650Val
ENST00000218104.5:c.1949C>T ENSP00000218104.3:p.Ala650Val
NM_000033.3:c.1949C>T NP_000024.2:p.Ala650Val
XR_938507.1:n.2421C>T
XR_938507.2:n.2421C>T
NM_000033.4:c.1949C>T MANE Select NP_000024.2:p.Ala650Val
Search 100 bp 5'
Search 100 bp 3'