Canonical Allele Identifier: CA2695045401
Gene: ABCD1 HGNC NCBI

Linked Data

gnomAD v4: X-153737096-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737096G>C , CM000685.2:g.153737096G>C GRCh38
NC_000023.10:g.153002550G>C , CM000685.1:g.153002550G>C GRCh37
NC_000023.9:g.152655744G>C NCBI36
NG_009022.2:g.17229G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1394-61G>C MANE Select ENSP00000218104.3:n.1394-61G>C
ENST00000218104.5:c.1394-61G>C ENSP00000218104.3:n.1394-61G>C
ENST00000443684.2:n.397-61G>C
NM_000033.3:c.1394-61G>C NP_000024.2:n.1394-61G>C
XR_938507.1:n.1866-61G>C
XR_938507.2:n.1866-61G>C
NM_000033.4:c.1394-61G>C MANE Select NP_000024.2:n.1394-61G>C
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