Canonical Allele Identifier: CA337240077
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs782648683

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736653C>T , CM000685.2:g.153736653C>T GRCh38
NC_000023.10:g.153002107C>T , CM000685.1:g.153002107C>T GRCh37
NC_000023.9:g.152655301C>T NCBI36
NG_009022.2:g.16786C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1393+140C>T MANE Select ENSP00000218104.3:n.1393+140C>T
ENST00000218104.5:c.1393+140C>T ENSP00000218104.3:n.1393+140C>T
ENST00000443684.2:n.396+140C>T
NM_000033.3:c.1393+140C>T NP_000024.2:n.1393+140C>T
XR_938507.1:n.1809+140C>T
XR_938507.2:n.1809+140C>T
NM_000033.4:c.1393+140C>T MANE Select NP_000024.2:n.1393+140C>T