Canonical Allele Identifier: CA10549955
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 767404
ClinVar RCV Id: RCV000946132
dbSNP Id: rs782720024
ExAC: X:152991157 T / A
gnomAD v2: X-152991157-T-A
gnomAD v3: X-153725702-T-A
gnomAD v4: X-153725702-T-A
MyVariant Identifiers: chrX:g.152991157T>A (hg19) chrX:g.153725702T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725702T>A , CM000685.2:g.153725702T>A GRCh38
NC_000023.10:g.152991157T>A , CM000685.1:g.152991157T>A GRCh37
NC_000023.9:g.152644351T>A NCBI36
NG_009022.2:g.5835T>A
NG_023231.1:g.4045A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.436T>A MANE Select ENSP00000218104.3:p.Phe146Ile
ENST00000218104.5:c.436T>A ENSP00000218104.3:p.Phe146Ile
NM_000033.3:c.436T>A NP_000024.2:p.Phe146Ile
XR_938507.1:n.852T>A
XR_938507.2:n.852T>A
NM_000033.4:c.436T>A MANE Select NP_000024.2:p.Phe146Ile
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