Canonical Allele Identifier: CA415107965

Gene: ABCD1

Linked Data

• gnomAD v4: X-153737161-G-T
• MyVariant Identifiers: chrX:g.153002615G>T (hg19) ; chrX:g.153737161G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153737161G>T , CM000685.2:g.153737161G>T	GRCh38
NC_000023.10:g.153002615G>T , CM000685.1:g.153002615G>T	GRCh37
NC_000023.9:g.152655809G>T	NCBI36
NG_009022.2:g.17294G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.1398G>T MANE Select	ENSP00000218104.3:p.Gln466His
ENST00000218104.5:c.1398G>T	ENSP00000218104.3:p.Gln466His
ENST00000443684.2:n.401G>T
NM_000033.3:c.1398G>T	NP_000024.2:p.Gln466His
XR_938507.1:n.1870G>T
XR_938507.2:n.1870G>T
NM_000033.4:c.1398G>T MANE Select	NP_000024.2:p.Gln466His