Canonical Allele Identifier: CA934779076
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1397866689
gnomAD v3: 11-6390383-A-T
gnomAD v4: 11-6390383-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390383A>T , CM000673.2:g.6390383A>T GRCh38
NC_000011.9:g.6411613A>T , CM000673.1:g.6411613A>T GRCh37
NC_000011.8:g.6368189A>T NCBI36
NG_011780.1:g.4959A>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-216A>T XP_005253132.1:n.-216A>T
XM_011520303.1:c.-216A>T XP_011518605.1:n.-216A>T
XM_011520304.1:c.-216A>T XP_011518606.1:n.-216A>T
XR_930886.1:n.83A>T
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