Canonical Allele Identifier: CA217298794
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1013987733
gnomAD v4: 11-6390312-G-T
MyVariant Identifiers: chr11:g.6411542G>T (hg19) chr11:g.6390312G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390312G>T , CM000673.2:g.6390312G>T GRCh38
NC_000011.9:g.6411542G>T , CM000673.1:g.6411542G>T GRCh37
NC_000011.8:g.6368118G>T NCBI36
NG_011780.1:g.4888G>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-287G>T XP_005253132.1:n.-287G>T
XM_011520303.1:c.-287G>T XP_011518605.1:n.-287G>T
XM_011520304.1:c.-287G>T XP_011518606.1:n.-287G>T
XR_930886.1:n.12G>T
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