Canonical Allele Identifier: CA10550159

Gene: ABCD1

Linked Data

• dbSNP Id: rs368415690
• ExAC: X:153001736 C / T
• gnomAD v2: X-153001736-C-T
• gnomAD v3: X-153736282-C-T
• gnomAD v4: X-153736282-C-T
• MyVariant Identifiers: chrX:g.153001736C>T (hg19) ; chrX:g.153736282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153736282C>T , CM000685.2:g.153736282C>T	GRCh38
NC_000023.10:g.153001736C>T , CM000685.1:g.153001736C>T	GRCh37
NC_000023.9:g.152654930C>T	NCBI36
NG_009022.2:g.16415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1224+28C>T MANE Select	ENSP00000218104.3:n.1224+28C>T
ENST00000218104.5:c.1224+28C>T	ENSP00000218104.3:n.1224+28C>T
ENST00000443684.2:n.227+28C>T
NM_000033.3:c.1224+28C>T	NP_000024.2:n.1224+28C>T
XR_938507.1:n.1640+28C>T
XR_938507.2:n.1640+28C>T
NM_000033.4:c.1224+28C>T MANE Select	NP_000024.2:n.1224+28C>T