Canonical Allele Identifier: CA415100403
Community Standard Title: NM_000033.4(ABCD1):c.900G>C (p.Glu300Asp)
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153726166G>C , CM000685.2:g.153726166G>C GRCh38
NC_000023.10:g.152991621G>C , CM000685.1:g.152991621G>C GRCh37
NC_000023.9:g.152644815G>C NCBI36
NG_009022.2:g.6299G>C
NG_023231.1:g.3581C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000033.4:c.900G>C MANE Select NP_000024.2:p.Glu300Asp
ENST00000218104.6:c.900G>C MANE Select ENSP00000218104.3:p.Glu300Asp
NM_000033.3:c.900G>C NP_000024.2:p.Glu300Asp
ENST00000218104.5:c.900G>C ENSP00000218104.3:p.Glu300Asp
ENST00000370129.4:c.345G>C ENSP00000359147.3:p.Glu115Asp
XR_938507.1:n.1316G>C
XR_938507.2:n.1316G>C
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