Canonical Allele Identifier: CA415098825
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 691979
ClinVar RCV Id: RCV000853228 RCV003327470
dbSNP Id: rs1603231911
MyVariant Identifiers: chrX:g.152991143C>T (hg19) chrX:g.153725688C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725688C>T , CM000685.2:g.153725688C>T GRCh38
NC_000023.10:g.152991143C>T , CM000685.1:g.152991143C>T GRCh37
NC_000023.9:g.152644337C>T NCBI36
NG_009022.2:g.5821C>T
NG_023231.1:g.4059G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.422C>T MANE Select ENSP00000218104.3:p.Ala141Val
ENST00000218104.5:c.422C>T ENSP00000218104.3:p.Ala141Val
NM_000033.3:c.422C>T NP_000024.2:p.Ala141Val
XR_938507.1:n.838C>T
XR_938507.2:n.838C>T
NM_000033.4:c.422C>T MANE Select NP_000024.2:p.Ala141Val
Search 100 bp 5'
Search 100 bp 3'