Canonical Allele Identifier: CA10549956
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs782720024
ExAC: X:152991157 T / G
gnomAD v2: X-152991157-T-G
gnomAD v4: X-153725702-T-G
MyVariant Identifiers: chrX:g.152991157T>G (hg19) chrX:g.153725702T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725702T>G , CM000685.2:g.153725702T>G GRCh38
NC_000023.10:g.152991157T>G , CM000685.1:g.152991157T>G GRCh37
NC_000023.9:g.152644351T>G NCBI36
NG_009022.2:g.5835T>G
NG_023231.1:g.4045A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.436T>G MANE Select ENSP00000218104.3:p.Phe146Val
ENST00000218104.5:c.436T>G ENSP00000218104.3:p.Phe146Val
NM_000033.3:c.436T>G NP_000024.2:p.Phe146Val
XR_938507.1:n.852T>G
XR_938507.2:n.852T>G
NM_000033.4:c.436T>G MANE Select NP_000024.2:p.Phe146Val
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