Canonical Allele Identifier: CA415098856
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.152991160G>C (hg19) chrX:g.153725705G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725705G>C , CM000685.2:g.153725705G>C GRCh38
NC_000023.10:g.152991160G>C , CM000685.1:g.152991160G>C GRCh37
NC_000023.9:g.152644354G>C NCBI36
NG_009022.2:g.5838G>C
NG_023231.1:g.4042C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.439G>C MANE Select ENSP00000218104.3:p.Val147Leu
ENST00000218104.5:c.439G>C ENSP00000218104.3:p.Val147Leu
NM_000033.3:c.439G>C NP_000024.2:p.Val147Leu
XR_938507.1:n.855G>C
XR_938507.2:n.855G>C
NM_000033.4:c.439G>C MANE Select NP_000024.2:p.Val147Leu
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