Canonical Allele Identifier: CA1138521340
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs2091766194
gnomAD v3: X-153741110-T-C
gnomAD v4: X-153741110-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153741110T>C , CM000685.2:g.153741110T>C GRCh38
NC_000023.10:g.153006564T>C , CM000685.1:g.153006564T>C GRCh37
NC_000023.9:g.152659758T>C NCBI36
NG_009022.2:g.21243T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1780+391T>C MANE Select ENSP00000218104.3:n.1780+391T>C
ENST00000218104.5:c.1780+391T>C ENSP00000218104.3:n.1780+391T>C
NM_000033.3:c.1780+391T>C NP_000024.2:n.1780+391T>C
XR_938507.1:n.2252+391T>C
XR_938507.2:n.2252+391T>C
NM_000033.4:c.1780+391T>C MANE Select NP_000024.2:n.1780+391T>C
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