Canonical Allele Identifier: CA2790301944
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390371dup , CM000673.2:g.6390371dup GRCh38
NC_000011.9:g.6411601dup , CM000673.1:g.6411601dup GRCh37
NC_000011.8:g.6368177dup NCBI36
NG_011780.1:g.4947dup

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-228dup XP_005253132.1:n.-228dup
XM_011520303.1:c.-228dup XP_011518605.1:n.-228dup
XM_011520304.1:c.-228dup XP_011518606.1:n.-228dup
XR_930886.1:n.71dup