Canonical Allele Identifier: CA2612220801
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390405-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390405C>A , CM000673.2:g.6390405C>A GRCh38
NC_000011.9:g.6411635C>A , CM000673.1:g.6411635C>A GRCh37
NC_000011.8:g.6368211C>A NCBI36
NG_011780.1:g.4981C>A

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-194C>A XP_005253132.1:n.-194C>A
XM_011520303.1:c.-194C>A XP_011518605.1:n.-194C>A
XM_011520304.1:c.-194C>A XP_011518606.1:n.-194C>A
XR_930886.1:n.105C>A
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