Canonical Allele Identifier: CA217298825
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs953413999
gnomAD v2: 11-6411648-G-T
gnomAD v3: 11-6390418-G-T
gnomAD v4: 11-6390418-G-T
MyVariant Identifiers: chr11:g.6411648G>T (hg19) chr11:g.6390418G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390418G>T , CM000673.2:g.6390418G>T GRCh38
NC_000011.9:g.6411648G>T , CM000673.1:g.6411648G>T GRCh37
NC_000011.8:g.6368224G>T NCBI36
NG_011780.1:g.4994G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000543.4:c.-181G>T NP_000534.3:n.-181G>T
NM_001007593.2:c.-181G>T NP_001007594.2:n.-181G>T
XM_005253075.3:c.-181G>T XP_005253132.1:n.-181G>T
XM_011520303.1:c.-181G>T XP_011518605.1:n.-181G>T
XM_011520304.1:c.-181G>T XP_011518606.1:n.-181G>T
XR_930886.1:n.118G>T
NM_001318087.1:c.-181G>T NP_001305016.1:n.-181G>T
NM_001318088.1:c.-1142G>T NP_001305017.1:n.-1142G>T
NR_027400.2:n.5G>T
NR_134502.1:n.5G>T
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