Canonical Allele Identifier: CA415112961

Gene: ABCD1

Linked Data

• MyVariant Identifiers: chrX:g.153006107T>A (hg19) ; chrX:g.153740653T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740653T>A , CM000685.2:g.153740653T>A	GRCh38
NC_000023.10:g.153006107T>A , CM000685.1:g.153006107T>A	GRCh37
NC_000023.9:g.152659301T>A	NCBI36
NG_009022.2:g.20786T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1714T>A MANE Select	ENSP00000218104.3:p.Ser572Thr
ENST00000218104.5:c.1714T>A	ENSP00000218104.3:p.Ser572Thr
NM_000033.3:c.1714T>A	NP_000024.2:p.Ser572Thr
XR_938507.1:n.2186T>A
XR_938507.2:n.2186T>A
NM_000033.4:c.1714T>A MANE Select	NP_000024.2:p.Ser572Thr