Canonical Allele Identifier: CA2695046656
Gene: ABCD1 HGNC NCBI

Linked Data

gnomAD v4: X-153742917-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153742917C>T , CM000685.2:g.153742917C>T GRCh38
NC_000023.10:g.153008371C>T , CM000685.1:g.153008371C>T GRCh37
NC_000023.9:g.152661565C>T NCBI36
NG_009022.2:g.23050C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1781-70C>T MANE Select ENSP00000218104.3:n.1781-70C>T
ENST00000218104.5:c.1781-70C>T ENSP00000218104.3:n.1781-70C>T
NM_000033.3:c.1781-70C>T NP_000024.2:n.1781-70C>T
XR_938507.1:n.2253-70C>T
XR_938507.2:n.2253-70C>T
NM_000033.4:c.1781-70C>T MANE Select NP_000024.2:n.1781-70C>T
Search 100 bp 5'
Search 100 bp 3'