Canonical Allele Identifier: CA217298814
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs559944130
gnomAD v3: 11-6390381-G-T
gnomAD v4: 11-6390381-G-T
MyVariant Identifiers: chr11:g.6411611G>T (hg19) chr11:g.6390381G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390381G>T , CM000673.2:g.6390381G>T GRCh38
NC_000011.9:g.6411611G>T , CM000673.1:g.6411611G>T GRCh37
NC_000011.8:g.6368187G>T NCBI36
NG_011780.1:g.4957G>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-218G>T XP_005253132.1:n.-218G>T
XM_011520303.1:c.-218G>T XP_011518605.1:n.-218G>T
XM_011520304.1:c.-218G>T XP_011518606.1:n.-218G>T
XR_930886.1:n.81G>T
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