Canonical Allele Identifier: CA415117393

Gene: ABCD1

Linked Data

• MyVariant Identifiers: chrX:g.153008753G>T (hg19) ; chrX:g.153743299G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743299G>T , CM000685.2:g.153743299G>T	GRCh38
NC_000023.10:g.153008753G>T , CM000685.1:g.153008753G>T	GRCh37
NC_000023.9:g.152661947G>T	NCBI36
NG_009022.2:g.23432G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1944G>T MANE Select	ENSP00000218104.3:p.Lys648Asn
ENST00000218104.5:c.1944G>T	ENSP00000218104.3:p.Lys648Asn
NM_000033.3:c.1944G>T	NP_000024.2:p.Lys648Asn
XR_938507.1:n.2416G>T
XR_938507.2:n.2416G>T
NM_000033.4:c.1944G>T MANE Select	NP_000024.2:p.Lys648Asn