Canonical Allele Identifier: CA415108062
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737171G>C , CM000685.2:g.153737171G>C GRCh38
NC_000023.10:g.153002625G>C , CM000685.1:g.153002625G>C GRCh37
NC_000023.9:g.152655819G>C NCBI36
NG_009022.2:g.17304G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1408G>C MANE Select ENSP00000218104.3:p.Val470Leu
ENST00000218104.5:c.1408G>C ENSP00000218104.3:p.Val470Leu
ENST00000443684.2:n.411G>C
NM_000033.3:c.1408G>C NP_000024.2:p.Val470Leu
XR_938507.1:n.1880G>C
XR_938507.2:n.1880G>C
NM_000033.4:c.1408G>C MANE Select NP_000024.2:p.Val470Leu