Canonical Allele Identifier: CA10549949

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 383794
• ClinVar RCV Id: RCV000681640 ; RCV001720188
• dbSNP Id: rs367799134
• ExAC: X:152991113 G / T
• gnomAD v2: X-152991113-G-T
• gnomAD v3: X-153725658-G-T
• gnomAD v4: X-153725658-G-T
• MyVariant Identifiers: chrX:g.152991113G>T (hg19) ; chrX:g.153725658G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153725658G>T , CM000685.2:g.153725658G>T	GRCh38
NC_000023.10:g.152991113G>T , CM000685.1:g.152991113G>T	GRCh37
NC_000023.9:g.152644307G>T	NCBI36
NG_009022.2:g.5791G>T
NG_023231.1:g.4089C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.392G>T MANE Select	ENSP00000218104.3:p.Gly131Val
ENST00000218104.5:c.392G>T	ENSP00000218104.3:p.Gly131Val
NM_000033.3:c.392G>T	NP_000024.2:p.Gly131Val
XR_938507.1:n.808G>T
XR_938507.2:n.808G>T
NM_000033.4:c.392G>T MANE Select	NP_000024.2:p.Gly131Val