Canonical Allele Identifier: CA679148436
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1478977482
gnomAD v4: 11-6390411-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390411A>G , CM000673.2:g.6390411A>G GRCh38
NC_000011.9:g.6411641A>G , CM000673.1:g.6411641A>G GRCh37
NC_000011.8:g.6368217A>G NCBI36
NG_011780.1:g.4987A>G

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-188A>G XP_005253132.1:n.-188A>G
XM_011520303.1:c.-188A>G XP_011518605.1:n.-188A>G
XM_011520304.1:c.-188A>G XP_011518606.1:n.-188A>G
XR_930886.1:n.111A>G