Canonical Allele Identifier: CA10549902

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 444828
• ClinVar RCV Id: RCV000512910 ; RCV001086974 ; RCV002350133 ; RCV003935340
• dbSNP Id: rs781855598
• ExAC: X:152990775 G / A
• gnomAD v2: X-152990775-G-A
• gnomAD v3: X-153725320-G-A
• gnomAD v4: X-153725320-G-A
• MyVariant Identifiers: chrX:g.152990775G>A (hg19) ; chrX:g.153725320G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153725320G>A , CM000685.2:g.153725320G>A	GRCh38
NC_000023.10:g.152990775G>A , CM000685.1:g.152990775G>A	GRCh37
NC_000023.9:g.152643969G>A	NCBI36
NG_009022.2:g.5453G>A
NG_023231.1:g.4427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.54G>A MANE Select	ENSP00000218104.3:p.Thr18=
ENST00000218104.5:c.54G>A	ENSP00000218104.3:p.Thr18=
NM_000033.3:c.54G>A	NP_000024.2:p.Thr18=
XR_938507.1:n.470G>A
XR_938507.2:n.470G>A
NM_000033.4:c.54G>A MANE Select	NP_000024.2:p.Thr18=