Canonical Allele Identifier: CA10549982
Gene: ABCD1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.153725880C>T
GRCh37 chrX:g.152991335C>T
Revel Score:
ENST00000218104 (MANE Select) 0.831
ENST00000370129 0.831
gnomAD v2:
X:152991335 C / T
gnomAD v3:
X:153725880 C / T
gnomAD v4:
chrX-153725880-C-T
Joint Max Group AF 0.00000714 (NFE)
Exomes Max Group AF 0.00000701 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725880C>T , CM000685.2:g.153725880C>T GRCh38
NC_000023.10:g.152991335C>T , CM000685.1:g.152991335C>T GRCh37
NC_000023.9:g.152644529C>T NCBI36
NG_009022.2:g.6013C>T
NG_023231.1:g.3867G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.614C>T MANE Select ENSP00000218104.3:p.Ala205Val
ENST00000218104.5:c.614C>T ENSP00000218104.3:p.Ala205Val
ENST00000370129.4:c.59C>T ENSP00000359147.3:p.Ala20Val
NM_000033.3:c.614C>T NP_000024.2:p.Ala205Val
XR_938507.1:n.1030C>T
XR_938507.2:n.1030C>T
NM_000033.4:c.614C>T MANE Select NP_000024.2:p.Ala205Val
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