Canonical Allele Identifier: CA415099025
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 458646
dbSNP Id: rs1557052390

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725787A>G , CM000685.2:g.153725787A>G GRCh38
NC_000023.10:g.152991242A>G , CM000685.1:g.152991242A>G GRCh37
NC_000023.9:g.152644436A>G NCBI36
NG_009022.2:g.5920A>G
NG_023231.1:g.3960T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.521A>G MANE Select ENSP00000218104.3:p.Tyr174Cys
ENST00000218104.5:c.521A>G ENSP00000218104.3:p.Tyr174Cys
NM_000033.3:c.521A>G NP_000024.2:p.Tyr174Cys
XR_938507.1:n.937A>G
XR_938507.2:n.937A>G
NM_000033.4:c.521A>G MANE Select NP_000024.2:p.Tyr174Cys