Canonical Allele Identifier: CA10550131
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1545912
ClinVar RCV Id: RCV002174780
dbSNP Id: rs374337788
ExAC: X:153001547 C / G
gnomAD v2: X-153001547-C-G
gnomAD v3: X-153736093-C-G
gnomAD v4: X-153736093-C-G
MyVariant Identifiers: chrX:g.153001547C>G (hg19) chrX:g.153736093C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736093C>G , CM000685.2:g.153736093C>G GRCh38
NC_000023.10:g.153001547C>G , CM000685.1:g.153001547C>G GRCh37
NC_000023.9:g.152654741C>G NCBI36
NG_009022.2:g.16226C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1082-19C>G MANE Select ENSP00000218104.3:n.1082-19C>G
ENST00000218104.5:c.1082-19C>G ENSP00000218104.3:n.1082-19C>G
ENST00000443684.2:n.85-19C>G
NM_000033.3:c.1082-19C>G NP_000024.2:n.1082-19C>G
XR_938507.1:n.1498-19C>G
XR_938507.2:n.1498-19C>G
NM_000033.4:c.1082-19C>G MANE Select NP_000024.2:n.1082-19C>G
Search 100 bp 5'
Search 100 bp 3'