Canonical Allele Identifier: CA1950145510

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847844843
• gnomAD v4: 11-6390444-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390444G>A , CM000673.2:g.6390444G>A	GRCh38
NC_000011.9:g.6411674G>A , CM000673.1:g.6411674G>A	GRCh37
NC_000011.8:g.6368250G>A	NCBI36
NG_011780.1:g.5020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-155G>A	ENSP00000340409.4:n.-155G>A
ENST00000533196.1:n.5G>A
NM_000543.4:c.-155G>A	NP_000534.3:n.-155G>A
NM_001007593.2:c.-155G>A	NP_001007594.2:n.-155G>A
XM_005253075.3:c.-155G>A	XP_005253132.1:n.-155G>A
XM_011520303.1:c.-155G>A	XP_011518605.1:n.-155G>A
XM_011520304.1:c.-155G>A	XP_011518606.1:n.-155G>A
XR_930886.1:n.144G>A
NM_001318087.1:c.-155G>A	NP_001305016.1:n.-155G>A
NM_001318088.1:c.-1116G>A	NP_001305017.1:n.-1116G>A
NR_027400.2:n.31G>A
NR_134502.1:n.31G>A