Canonical Allele Identifier: CA519218213

Gene: ABCD1

Linked Data

• MyVariant Identifiers: chrX:g.153002654C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153737200C>T , CM000685.2:g.153737200C>T	GRCh38
NC_000023.10:g.153002654C>T , CM000685.1:g.153002654C>T	GRCh37
NC_000023.9:g.152655848C>T	NCBI36
NG_009022.2:g.17333C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.1437C>T MANE Select	ENSP00000218104.3:p.Ile479=
ENST00000218104.5:c.1437C>T	ENSP00000218104.3:p.Ile479=
ENST00000443684.2:n.440C>T
NM_000033.3:c.1437C>T	NP_000024.2:p.Ile479=
XR_938507.1:n.1909C>T
XR_938507.2:n.1909C>T
NM_000033.4:c.1437C>T MANE Select	NP_000024.2:p.Ile479=