Canonical Allele Identifier: CA415115618
Gene: ABCD1 HGNC NCBI

Linked Data

gnomAD v4: X-153742990-G-T
MyVariant Identifiers: chrX:g.153008444G>T (hg19) chrX:g.153742990G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153742990G>T , CM000685.2:g.153742990G>T GRCh38
NC_000023.10:g.153008444G>T , CM000685.1:g.153008444G>T GRCh37
NC_000023.9:g.152661638G>T NCBI36
NG_009022.2:g.23123G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1784G>T MANE Select ENSP00000218104.3:p.Trp595Leu
ENST00000218104.5:c.1784G>T ENSP00000218104.3:p.Trp595Leu
NM_000033.3:c.1784G>T NP_000024.2:p.Trp595Leu
XR_938507.1:n.2256G>T
XR_938507.2:n.2256G>T
NM_000033.4:c.1784G>T MANE Select NP_000024.2:p.Trp595Leu
Search 100 bp 5'
Search 100 bp 3'