Canonical Allele Identifier: CA934779117

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847844254
• gnomAD v3: 11-6390426-T-C
• gnomAD v4: 11-6390426-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390426T>C , CM000673.2:g.6390426T>C	GRCh38
NC_000011.9:g.6411656T>C , CM000673.1:g.6411656T>C	GRCh37
NC_000011.8:g.6368232T>C	NCBI36
NG_011780.1:g.5002T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.4:c.-173T>C	NP_000534.3:n.-173T>C
NM_001007593.2:c.-173T>C	NP_001007594.2:n.-173T>C
XM_005253075.3:c.-173T>C	XP_005253132.1:n.-173T>C
XM_011520303.1:c.-173T>C	XP_011518605.1:n.-173T>C
XM_011520304.1:c.-173T>C	XP_011518606.1:n.-173T>C
XR_930886.1:n.126T>C
NM_001318087.1:c.-173T>C	NP_001305016.1:n.-173T>C
NM_001318088.1:c.-1134T>C	NP_001305017.1:n.-1134T>C
NR_027400.2:n.13T>C
NR_134502.1:n.13T>C