Canonical Allele Identifier: CA10550176
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1434389
ClinVar RCV Id: RCV001984625
dbSNP Id: rs782598285
ExAC: X:153001865 C / T
gnomAD v2: X-153001865-C-T
gnomAD v4: X-153736411-C-T
MyVariant Identifiers: chrX:g.153001865C>T (hg19) chrX:g.153736411C>T (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1291C>T MANE Select ENSP00000218104.3:p.Arg431Cys
ENST00000218104.5:c.1291C>T ENSP00000218104.3:p.Arg431Cys
ENST00000443684.2:n.294C>T
NM_000033.3:c.1291C>T NP_000024.2:p.Arg431Cys
XR_938507.1:n.1707C>T
XR_938507.2:n.1707C>T
NM_000033.4:c.1291C>T MANE Select NP_000024.2:p.Arg431Cys
Search 100 bp 5'
Search 100 bp 3'