Canonical Allele Identifier: CA415112708
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 947810
ClinVar RCV Id: RCV001218948 RCV003490129
dbSNP Id: rs2091764595
MyVariant Identifiers: chrX:g.153006077T>C (hg19) chrX:g.153740623T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740623T>C , CM000685.2:g.153740623T>C GRCh38
NC_000023.10:g.153006077T>C , CM000685.1:g.153006077T>C GRCh37
NC_000023.9:g.152659271T>C NCBI36
NG_009022.2:g.20756T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1684T>C MANE Select ENSP00000218104.3:p.Ser562Pro
ENST00000218104.5:c.1684T>C ENSP00000218104.3:p.Ser562Pro
NM_000033.3:c.1684T>C NP_000024.2:p.Ser562Pro
XR_938507.1:n.2156T>C
XR_938507.2:n.2156T>C
NM_000033.4:c.1684T>C MANE Select NP_000024.2:p.Ser562Pro
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