Canonical Allele Identifier: CA2612220765
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390378-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390378T>A , CM000673.2:g.6390378T>A GRCh38
NC_000011.9:g.6411608T>A , CM000673.1:g.6411608T>A GRCh37
NC_000011.8:g.6368184T>A NCBI36
NG_011780.1:g.4954T>A

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-221T>A XP_005253132.1:n.-221T>A
XM_011520303.1:c.-221T>A XP_011518605.1:n.-221T>A
XM_011520304.1:c.-221T>A XP_011518606.1:n.-221T>A
XR_930886.1:n.78T>A
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