Canonical Allele Identifier: CA415099052

Gene: ABCD1

Linked Data

• MyVariant Identifiers: chrX:g.152991253C>T (hg19) ; chrX:g.153725798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153725798C>T , CM000685.2:g.153725798C>T	GRCh38
NC_000023.10:g.152991253C>T , CM000685.1:g.152991253C>T	GRCh37
NC_000023.9:g.152644447C>T	NCBI36
NG_009022.2:g.5931C>T
NG_023231.1:g.3949G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.532C>T MANE Select	ENSP00000218104.3:p.Gln178Ter
ENST00000218104.5:c.532C>T	ENSP00000218104.3:p.Gln178Ter
NM_000033.3:c.532C>T	NP_000024.2:p.Gln178Ter
XR_938507.1:n.948C>T
XR_938507.2:n.948C>T
NM_000033.4:c.532C>T MANE Select	NP_000024.2:p.Gln178Ter