Canonical Allele Identifier: CA415098827
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2175304
ClinVar RCV Id: RCV002579123
dbSNP Id: rs1357995551
gnomAD v2: X-152991145-C-G
gnomAD v3: X-153725690-C-G
gnomAD v4: X-153725690-C-G
MyVariant Identifiers: chrX:g.152991145C>G (hg19) chrX:g.153725690C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725690C>G , CM000685.2:g.153725690C>G GRCh38
NC_000023.10:g.152991145C>G , CM000685.1:g.152991145C>G GRCh37
NC_000023.9:g.152644339C>G NCBI36
NG_009022.2:g.5823C>G
NG_023231.1:g.4057G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.424C>G MANE Select ENSP00000218104.3:p.Leu142Val
ENST00000218104.5:c.424C>G ENSP00000218104.3:p.Leu142Val
NM_000033.3:c.424C>G NP_000024.2:p.Leu142Val
XR_938507.1:n.840C>G
XR_938507.2:n.840C>G
NM_000033.4:c.424C>G MANE Select NP_000024.2:p.Leu142Val
Search 100 bp 5'
Search 100 bp 3'