Canonical Allele Identifier: CA1950145480
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1847843264
gnomAD v4: 11-6390398-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390398C>T , CM000673.2:g.6390398C>T GRCh38
NC_000011.9:g.6411628C>T , CM000673.1:g.6411628C>T GRCh37
NC_000011.8:g.6368204C>T NCBI36
NG_011780.1:g.4974C>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-201C>T XP_005253132.1:n.-201C>T
XM_011520303.1:c.-201C>T XP_011518605.1:n.-201C>T
XM_011520304.1:c.-201C>T XP_011518606.1:n.-201C>T
XR_930886.1:n.98C>T