Canonical Allele Identifier: CA415106534
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153001865C>A (hg19) chrX:g.153736411C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736411C>A , CM000685.2:g.153736411C>A GRCh38
NC_000023.10:g.153001865C>A , CM000685.1:g.153001865C>A GRCh37
NC_000023.9:g.152655059C>A NCBI36
NG_009022.2:g.16544C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1291C>A MANE Select ENSP00000218104.3:p.Arg431Ser
ENST00000218104.5:c.1291C>A ENSP00000218104.3:p.Arg431Ser
ENST00000443684.2:n.294C>A
NM_000033.3:c.1291C>A NP_000024.2:p.Arg431Ser
XR_938507.1:n.1707C>A
XR_938507.2:n.1707C>A
NM_000033.4:c.1291C>A MANE Select NP_000024.2:p.Arg431Ser
Search 100 bp 5'
Search 100 bp 3'