Canonical Allele Identifier: CA10550198
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1169516
ClinVar RCV Id: RCV001520894
dbSNP Id: rs188551185
ExAC: X:153001985 C / G
gnomAD v2: X-153001985-C-G
gnomAD v3: X-153736531-C-G
gnomAD v4: X-153736531-C-G
MyVariant Identifiers: chrX:g.153001985C>G (hg19) chrX:g.153736531C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736531C>G , CM000685.2:g.153736531C>G GRCh38
NC_000023.10:g.153001985C>G , CM000685.1:g.153001985C>G GRCh37
NC_000023.9:g.152655179C>G NCBI36
NG_009022.2:g.16664C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1393+18C>G MANE Select ENSP00000218104.3:n.1393+18C>G
ENST00000218104.5:c.1393+18C>G ENSP00000218104.3:n.1393+18C>G
ENST00000443684.2:n.396+18C>G
NM_000033.3:c.1393+18C>G NP_000024.2:n.1393+18C>G
XR_938507.1:n.1809+18C>G
XR_938507.2:n.1809+18C>G
NM_000033.4:c.1393+18C>G MANE Select NP_000024.2:n.1393+18C>G
Search 100 bp 5'
Search 100 bp 3'