Canonical Allele Identifier: CA415100336
Community Standard Title: NM_000033.4(ABCD1):c.887A>C (p.Tyr296Ser)
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153726153A>C , CM000685.2:g.153726153A>C GRCh38
NC_000023.10:g.152991608A>C , CM000685.1:g.152991608A>C GRCh37
NC_000023.9:g.152644802A>C NCBI36
NG_009022.2:g.6286A>C
NG_023231.1:g.3594T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000033.4:c.887A>C MANE Select NP_000024.2:p.Tyr296Ser
ENST00000218104.6:c.887A>C MANE Select ENSP00000218104.3:p.Tyr296Ser
NM_000033.3:c.887A>C NP_000024.2:p.Tyr296Ser
ENST00000218104.5:c.887A>C ENSP00000218104.3:p.Tyr296Ser
ENST00000370129.4:c.332A>C ENSP00000359147.3:p.Tyr111Ser
XR_938507.1:n.1303A>C
XR_938507.2:n.1303A>C
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