Canonical Allele Identifier: CA679148416
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1473174669
gnomAD v3: 11-6390403-A-T
gnomAD v4: 11-6390403-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390403A>T , CM000673.2:g.6390403A>T GRCh38
NC_000011.9:g.6411633A>T , CM000673.1:g.6411633A>T GRCh37
NC_000011.8:g.6368209A>T NCBI36
NG_011780.1:g.4979A>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-196A>T XP_005253132.1:n.-196A>T
XM_011520303.1:c.-196A>T XP_011518605.1:n.-196A>T
XM_011520304.1:c.-196A>T XP_011518606.1:n.-196A>T
XR_930886.1:n.103A>T