Canonical Allele Identifier: CA10549954
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1979299
ClinVar RCV Id: RCV002766199
dbSNP Id: rs782377368
ExAC: X:152991156 C / G
gnomAD v2: X-152991156-C-G
gnomAD v4: X-153725701-C-G
MyVariant Identifiers: chrX:g.152991156C>G (hg19) chrX:g.153725701C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725701C>G , CM000685.2:g.153725701C>G GRCh38
NC_000023.10:g.152991156C>G , CM000685.1:g.152991156C>G GRCh37
NC_000023.9:g.152644350C>G NCBI36
NG_009022.2:g.5834C>G
NG_023231.1:g.4046G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.435C>G MANE Select ENSP00000218104.3:p.Thr145=
ENST00000218104.5:c.435C>G ENSP00000218104.3:p.Thr145=
NM_000033.3:c.435C>G NP_000024.2:p.Thr145=
XR_938507.1:n.851C>G
XR_938507.2:n.851C>G
NM_000033.4:c.435C>G MANE Select NP_000024.2:p.Thr145=
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