Canonical Allele Identifier: CA519345833
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs2148395640
gnomAD v4: X-153736413-C-T
MyVariant Identifiers: chrX:g.153001867C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736413C>T , CM000685.2:g.153736413C>T GRCh38
NC_000023.10:g.153001867C>T , CM000685.1:g.153001867C>T GRCh37
NC_000023.9:g.152655061C>T NCBI36
NG_009022.2:g.16546C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1293C>T MANE Select ENSP00000218104.3:p.Arg431=
ENST00000218104.5:c.1293C>T ENSP00000218104.3:p.Arg431=
ENST00000443684.2:n.296C>T
NM_000033.3:c.1293C>T NP_000024.2:p.Arg431=
XR_938507.1:n.1709C>T
XR_938507.2:n.1709C>T
NM_000033.4:c.1293C>T MANE Select NP_000024.2:p.Arg431=
Search 100 bp 5'
Search 100 bp 3'