Canonical Allele Identifier: CA1950145483
Gene: SMPD1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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