Canonical Allele Identifier: CA415105262
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 838304
ClinVar RCV Id: RCV001039824
dbSNP Id: rs1557054173

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736202T>C , CM000685.2:g.153736202T>C GRCh38
NC_000023.10:g.153001656T>C , CM000685.1:g.153001656T>C GRCh37
NC_000023.9:g.152654850T>C NCBI36
NG_009022.2:g.16335T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1172T>C MANE Select ENSP00000218104.3:p.Leu391Pro
ENST00000218104.5:c.1172T>C ENSP00000218104.3:p.Leu391Pro
ENST00000443684.2:n.175T>C
NM_000033.3:c.1172T>C NP_000024.2:p.Leu391Pro
XR_938507.1:n.1588T>C
XR_938507.2:n.1588T>C
NM_000033.4:c.1172T>C MANE Select NP_000024.2:p.Leu391Pro