Canonical Allele Identifier: CA10550340

Gene: ABCD1

Linked Data

• dbSNP Id: rs781849447
• ExAC: X:153008626 G / A
• gnomAD v2: X-153008626-G-A
• gnomAD v3: X-153743172-G-A
• gnomAD v4: X-153743172-G-A
• MyVariant Identifiers: chrX:g.153008626G>A (hg19) ; chrX:g.153743172G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743172G>A , CM000685.2:g.153743172G>A	GRCh38
NC_000023.10:g.153008626G>A , CM000685.1:g.153008626G>A	GRCh37
NC_000023.9:g.152661820G>A	NCBI36
NG_009022.2:g.23305G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.1866-49G>A MANE Select	ENSP00000218104.3:n.1866-49G>A
ENST00000218104.5:c.1866-49G>A	ENSP00000218104.3:n.1866-49G>A
NM_000033.3:c.1866-49G>A	NP_000024.2:n.1866-49G>A
XR_938507.1:n.2338-49G>A
XR_938507.2:n.2338-49G>A
NM_000033.4:c.1866-49G>A MANE Select	NP_000024.2:n.1866-49G>A