Canonical Allele Identifier: CA645288143

Gene: ABCD1

Linked Data

• dbSNP Id: rs1211443711
• gnomAD v2: X-153008622-G-A
• gnomAD v3: X-153743168-G-A
• gnomAD v4: X-153743168-G-A
• MyVariant Identifiers: chrX:g.153008622G>A (hg19) ; chrX:g.153743168G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743168G>A , CM000685.2:g.153743168G>A	GRCh38
NC_000023.10:g.153008622G>A , CM000685.1:g.153008622G>A	GRCh37
NC_000023.9:g.152661816G>A	NCBI36
NG_009022.2:g.23301G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1866-53G>A MANE Select	ENSP00000218104.3:n.1866-53G>A
ENST00000218104.5:c.1866-53G>A	ENSP00000218104.3:n.1866-53G>A
NM_000033.3:c.1866-53G>A	NP_000024.2:n.1866-53G>A
XR_938507.1:n.2338-53G>A
XR_938507.2:n.2338-53G>A
NM_000033.4:c.1866-53G>A MANE Select	NP_000024.2:n.1866-53G>A