Canonical Allele Identifier: CA249262

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 218423
• ClinVar RCV Id: RCV000203059 ; RCV000990979 ; RCV001358088
• dbSNP Id: rs78993751
• ExAC: X:153008483 G / A
• gnomAD v2: X-153008483-G-A
• gnomAD v4: X-153743029-G-A
• MyVariant Identifiers: chrX:g.153008483G>A (hg19) ; chrX:g.153743029G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743029G>A , CM000685.2:g.153743029G>A	GRCh38
NC_000023.10:g.153008483G>A , CM000685.1:g.153008483G>A	GRCh37
NC_000023.9:g.152661677G>A	NCBI36
NG_009022.2:g.23162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1823G>A MANE Select	ENSP00000218104.3:p.Gly608Asp
ENST00000218104.5:c.1823G>A	ENSP00000218104.3:p.Gly608Asp
NM_000033.3:c.1823G>A	NP_000024.2:p.Gly608Asp
XR_938507.1:n.2295G>A
XR_938507.2:n.2295G>A
NM_000033.4:c.1823G>A MANE Select	NP_000024.2:p.Gly608Asp