Canonical Allele Identifier: CA10549957
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2413525
ClinVar RCV Id: RCV003104321
dbSNP Id: rs782720766
ExAC: X:152991160 G / A
gnomAD v2: X-152991160-G-A
gnomAD v4: X-153725705-G-A
MyVariant Identifiers: chrX:g.152991160G>A (hg19) chrX:g.153725705G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725705G>A , CM000685.2:g.153725705G>A GRCh38
NC_000023.10:g.152991160G>A , CM000685.1:g.152991160G>A GRCh37
NC_000023.9:g.152644354G>A NCBI36
NG_009022.2:g.5838G>A
NG_023231.1:g.4042C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.439G>A MANE Select ENSP00000218104.3:p.Val147Ile
ENST00000218104.5:c.439G>A ENSP00000218104.3:p.Val147Ile
NM_000033.3:c.439G>A NP_000024.2:p.Val147Ile
XR_938507.1:n.855G>A
XR_938507.2:n.855G>A
NM_000033.4:c.439G>A MANE Select NP_000024.2:p.Val147Ile
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