Canonical Allele Identifier: CA519345571
Gene: ABCD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.152991162C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725707C>A , CM000685.2:g.153725707C>A GRCh38
NC_000023.10:g.152991162C>A , CM000685.1:g.152991162C>A GRCh37
NC_000023.9:g.152644356C>A NCBI36
NG_009022.2:g.5840C>A
NG_023231.1:g.4040G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.441C>A MANE Select ENSP00000218104.3:p.Val147=
ENST00000218104.5:c.441C>A ENSP00000218104.3:p.Val147=
NM_000033.3:c.441C>A NP_000024.2:p.Val147=
XR_938507.1:n.857C>A
XR_938507.2:n.857C>A
NM_000033.4:c.441C>A MANE Select NP_000024.2:p.Val147=
Search 100 bp 5'
Search 100 bp 3'