Canonical Allele Identifier: CA415098857
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725705G>T , CM000685.2:g.153725705G>T GRCh38
NC_000023.10:g.152991160G>T , CM000685.1:g.152991160G>T GRCh37
NC_000023.9:g.152644354G>T NCBI36
NG_009022.2:g.5838G>T
NG_023231.1:g.4042C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.439G>T MANE Select ENSP00000218104.3:p.Val147Phe
ENST00000218104.5:c.439G>T ENSP00000218104.3:p.Val147Phe
NM_000033.3:c.439G>T NP_000024.2:p.Val147Phe
XR_938507.1:n.855G>T
XR_938507.2:n.855G>T
NM_000033.4:c.439G>T MANE Select NP_000024.2:p.Val147Phe