Canonical Allele Identifier: CA10550287

Gene: ABCD1

Linked Data

• dbSNP Id: rs79831635
• ExAC: X:153006004 C / T
• gnomAD v2: X-153006004-C-T
• gnomAD v3: X-153740550-C-T
• gnomAD v4: X-153740550-C-T
• MyVariant Identifiers: chrX:g.153006004C>T (hg19) ; chrX:g.153740550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740550C>T , CM000685.2:g.153740550C>T	GRCh38
NC_000023.10:g.153006004C>T , CM000685.1:g.153006004C>T	GRCh37
NC_000023.9:g.152659198C>T	NCBI36
NG_009022.2:g.20683C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1635-24C>T MANE Select	ENSP00000218104.3:n.1635-24C>T
ENST00000218104.5:c.1635-24C>T	ENSP00000218104.3:n.1635-24C>T
ENST00000443684.2:n.638-24C>T
NM_000033.3:c.1635-24C>T	NP_000024.2:n.1635-24C>T
XR_938507.1:n.2107-24C>T
XR_938507.2:n.2107-24C>T
NM_000033.4:c.1635-24C>T MANE Select	NP_000024.2:n.1635-24C>T