Canonical Allele Identifier: CA10549972
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs782635993
ExAC: X:152991258 C / T
gnomAD v2: X-152991258-C-T
gnomAD v3: X-153725803-C-T
gnomAD v4: X-153725803-C-T
MyVariant Identifiers: chrX:g.152991258C>T (hg19) chrX:g.153725803C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725803C>T , CM000685.2:g.153725803C>T GRCh38
NC_000023.10:g.152991258C>T , CM000685.1:g.152991258C>T GRCh37
NC_000023.9:g.152644452C>T NCBI36
NG_009022.2:g.5936C>T
NG_023231.1:g.3944G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.537C>T MANE Select ENSP00000218104.3:p.Thr179=
ENST00000218104.5:c.537C>T ENSP00000218104.3:p.Thr179=
NM_000033.3:c.537C>T NP_000024.2:p.Thr179=
XR_938507.1:n.953C>T
XR_938507.2:n.953C>T
NM_000033.4:c.537C>T MANE Select NP_000024.2:p.Thr179=
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