Canonical Allele Identifier: CA679148356
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1366771551
gnomAD v3: 11-6390334-G-A
gnomAD v4: 11-6390334-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390334G>A , CM000673.2:g.6390334G>A GRCh38
NC_000011.9:g.6411564G>A , CM000673.1:g.6411564G>A GRCh37
NC_000011.8:g.6368140G>A NCBI36
NG_011780.1:g.4910G>A

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-265G>A XP_005253132.1:n.-265G>A
XM_011520303.1:c.-265G>A XP_011518605.1:n.-265G>A
XM_011520304.1:c.-265G>A XP_011518606.1:n.-265G>A
XR_930886.1:n.34G>A