Canonical Allele Identifier: CA217298802
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1212653
ClinVar RCV Id: RCV001586300
dbSNP Id: rs185097277
gnomAD v2: 11-6411574-G-C
gnomAD v3: 11-6390344-G-C
gnomAD v4: 11-6390344-G-C
MyVariant Identifiers: chr11:g.6411574G>C (hg19) chr11:g.6390344G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390344G>C , CM000673.2:g.6390344G>C GRCh38
NC_000011.9:g.6411574G>C , CM000673.1:g.6411574G>C GRCh37
NC_000011.8:g.6368150G>C NCBI36
NG_011780.1:g.4920G>C

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-255G>C XP_005253132.1:n.-255G>C
XM_011520303.1:c.-255G>C XP_011518605.1:n.-255G>C
XM_011520304.1:c.-255G>C XP_011518606.1:n.-255G>C
XR_930886.1:n.44G>C
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