Canonical Allele Identifier: CA10549952
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 739121
ClinVar RCV Id: RCV000915069
dbSNP Id: rs74315279
ExAC: X:152991141 C / T
gnomAD v2: X-152991141-C-T
gnomAD v3: X-153725686-C-T
gnomAD v4: X-153725686-C-T
MyVariant Identifiers: chrX:g.152991141C>T (hg19) chrX:g.153725686C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725686C>T , CM000685.2:g.153725686C>T GRCh38
NC_000023.10:g.152991141C>T , CM000685.1:g.152991141C>T GRCh37
NC_000023.9:g.152644335C>T NCBI36
NG_009022.2:g.5819C>T
NG_023231.1:g.4061G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.420C>T MANE Select ENSP00000218104.3:p.Ile140=
ENST00000218104.5:c.420C>T ENSP00000218104.3:p.Ile140=
NM_000033.3:c.420C>T NP_000024.2:p.Ile140=
XR_938507.1:n.836C>T
XR_938507.2:n.836C>T
NM_000033.4:c.420C>T MANE Select NP_000024.2:p.Ile140=
Search 100 bp 5'
Search 100 bp 3'