Canonical Allele Identifier: CA597262251
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1564920845
gnomAD v2: 11-6411535-G-A
gnomAD v3: 11-6390305-G-A
gnomAD v4: 11-6390305-G-A
MyVariant Identifiers: chr11:g.6411535_6411581delinsACCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT (hg19) chr11:g.6390305_6390351delinsACCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390305G>A , CM000673.2:g.6390305G>A GRCh38
NC_000011.9:g.6411535G>A , CM000673.1:g.6411535G>A GRCh37
NC_000011.8:g.6368111G>A NCBI36
NG_011780.1:g.4881G>A

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-294G>A XP_005253132.1:n.-294G>A
XM_011520303.1:c.-294G>A XP_011518605.1:n.-294G>A
XM_011520304.1:c.-294G>A XP_011518606.1:n.-294G>A
XR_930886.1:n.5G>A
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