Canonical Allele Identifier: CA415099071
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725807T>A , CM000685.2:g.153725807T>A GRCh38
NC_000023.10:g.152991262T>A , CM000685.1:g.152991262T>A GRCh37
NC_000023.9:g.152644456T>A NCBI36
NG_009022.2:g.5940T>A
NG_023231.1:g.3940A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.541T>A MANE Select ENSP00000218104.3:p.Tyr181Asn
ENST00000218104.5:c.541T>A ENSP00000218104.3:p.Tyr181Asn
NM_000033.3:c.541T>A NP_000024.2:p.Tyr181Asn
XR_938507.1:n.957T>A
XR_938507.2:n.957T>A
NM_000033.4:c.541T>A MANE Select NP_000024.2:p.Tyr181Asn