Canonical Allele Identifier: CA10549900

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 458643
• ClinVar RCV Id: RCV000537259 ; RCV003925603 ; RCV001508971 ; RCV002311848
• dbSNP Id: rs782161942
• ExAC: X:152990762 C / G
• gnomAD v2: X-152990762-C-G
• gnomAD v3: X-153725307-C-G
• gnomAD v4: X-153725307-C-G
• MyVariant Identifiers: chrX:g.152990762C>G (hg19) ; chrX:g.153725307C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153725307C>G , CM000685.2:g.153725307C>G	GRCh38
NC_000023.10:g.152990762C>G , CM000685.1:g.152990762C>G	GRCh37
NC_000023.9:g.152643956C>G	NCBI36
NG_009022.2:g.5440C>G
NG_023231.1:g.4440G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.41C>G MANE Select	ENSP00000218104.3:p.Thr14Arg
ENST00000218104.5:c.41C>G	ENSP00000218104.3:p.Thr14Arg
NM_000033.3:c.41C>G	NP_000024.2:p.Thr14Arg
XR_938507.1:n.457C>G
XR_938507.2:n.457C>G
NM_000033.4:c.41C>G MANE Select	NP_000024.2:p.Thr14Arg