Canonical Allele Identifier: CA415100715

Gene: ABCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153729284A>T , CM000685.2:g.153729284A>T	GRCh38
NC_000023.10:g.152994739A>T , CM000685.1:g.152994739A>T	GRCh37
NC_000023.9:g.152647933A>T	NCBI36
NG_009022.2:g.9417A>T
NG_023231.1:g.463T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000033.4:c.953A>T MANE Select	NP_000024.2:p.Asn318Ile
ENST00000218104.6:c.953A>T MANE Select	ENSP00000218104.3:p.Asn318Ile
NM_000033.3:c.953A>T	NP_000024.2:p.Asn318Ile
ENST00000218104.5:c.953A>T	ENSP00000218104.3:p.Asn318Ile
ENST00000370129.4:c.398A>T	ENSP00000359147.3:p.Asn133Ile
XR_938507.1:n.1369A>T
XR_938507.2:n.1369A>T