Canonical Allele Identifier: CA1950145484
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1847843427

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390400G>C , CM000673.2:g.6390400G>C GRCh38
NC_000011.9:g.6411630G>C , CM000673.1:g.6411630G>C GRCh37
NC_000011.8:g.6368206G>C NCBI36
NG_011780.1:g.4976G>C

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-199G>C XP_005253132.1:n.-199G>C
XM_011520303.1:c.-199G>C XP_011518605.1:n.-199G>C
XM_011520304.1:c.-199G>C XP_011518606.1:n.-199G>C
XR_930886.1:n.100G>C