Canonical Allele Identifier: CA2739273810
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2890237
ClinVar RCV Id: RCV003624174
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736522G>T , CM000685.2:g.153736522G>T GRCh38
NC_000023.10:g.153001976G>T , CM000685.1:g.153001976G>T GRCh37
NC_000023.9:g.152655170G>T NCBI36
NG_009022.2:g.16655G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1393+9G>T MANE Select ENSP00000218104.3:n.1393+9G>T
ENST00000218104.5:c.1393+9G>T ENSP00000218104.3:n.1393+9G>T
ENST00000443684.2:n.396+9G>T
NM_000033.3:c.1393+9G>T NP_000024.2:n.1393+9G>T
XR_938507.1:n.1809+9G>T
XR_938507.2:n.1809+9G>T
NM_000033.4:c.1393+9G>T MANE Select NP_000024.2:n.1393+9G>T
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Search 100 bp 3'