Canonical Allele Identifier: CA415099069
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725806C>A , CM000685.2:g.153725806C>A GRCh38
NC_000023.10:g.152991261C>A , CM000685.1:g.152991261C>A GRCh37
NC_000023.9:g.152644455C>A NCBI36
NG_009022.2:g.5939C>A
NG_023231.1:g.3941G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.540C>A MANE Select ENSP00000218104.3:p.Tyr180Ter
ENST00000218104.5:c.540C>A ENSP00000218104.3:p.Tyr180Ter
NM_000033.3:c.540C>A NP_000024.2:p.Tyr180Ter
XR_938507.1:n.956C>A
XR_938507.2:n.956C>A
NM_000033.4:c.540C>A MANE Select NP_000024.2:p.Tyr180Ter