Canonical Allele Identifier: CA415112602
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2790583
ClinVar RCV Id: RCV003624703
MyVariant Identifiers: chrX:g.153006063T>C (hg19) chrX:g.153740609T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740609T>C , CM000685.2:g.153740609T>C GRCh38
NC_000023.10:g.153006063T>C , CM000685.1:g.153006063T>C GRCh37
NC_000023.9:g.152659257T>C NCBI36
NG_009022.2:g.20742T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1670T>C MANE Select ENSP00000218104.3:p.Val557Ala
ENST00000218104.5:c.1670T>C ENSP00000218104.3:p.Val557Ala
NM_000033.3:c.1670T>C NP_000024.2:p.Val557Ala
XR_938507.1:n.2142T>C
XR_938507.2:n.2142T>C
NM_000033.4:c.1670T>C MANE Select NP_000024.2:p.Val557Ala
Search 100 bp 5'
Search 100 bp 3'