Canonical Allele Identifier: CA2612220722
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs2134003385
gnomAD v4: 11-6390358-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390358A>G , CM000673.2:g.6390358A>G GRCh38
NC_000011.9:g.6411588A>G , CM000673.1:g.6411588A>G GRCh37
NC_000011.8:g.6368164A>G NCBI36
NG_011780.1:g.4934A>G

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-241A>G XP_005253132.1:n.-241A>G
XM_011520303.1:c.-241A>G XP_011518605.1:n.-241A>G
XM_011520304.1:c.-241A>G XP_011518606.1:n.-241A>G
XR_930886.1:n.58A>G