Canonical Allele Identifier: CA934779153

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847845950
• gnomAD v3: 11-6390469-G-A
• gnomAD v4: 11-6390469-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390469G>A , CM000673.2:g.6390469G>A	GRCh38
NC_000011.9:g.6411699G>A , CM000673.1:g.6411699G>A	GRCh37
NC_000011.8:g.6368275G>A	NCBI36
NG_011780.1:g.5045G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-130G>A	ENSP00000340409.4:n.-130G>A
ENST00000530395.1:c.-266G>A	ENSP00000431479.1:n.-266G>A
ENST00000533196.1:n.30G>A
NM_000543.4:c.-130G>A	NP_000534.3:n.-130G>A
NM_001007593.2:c.-130G>A	NP_001007594.2:n.-130G>A
XM_005253075.3:c.-130G>A	XP_005253132.1:n.-130G>A
XM_011520303.1:c.-130G>A	XP_011518605.1:n.-130G>A
XM_011520304.1:c.-130G>A	XP_011518606.1:n.-130G>A
XR_930886.1:n.169G>A
NM_001318087.1:c.-130G>A	NP_001305016.1:n.-130G>A
NM_001318088.1:c.-1091G>A	NP_001305017.1:n.-1091G>A
NR_027400.2:n.56G>A
NR_134502.1:n.56G>A