Canonical Allele Identifier: CA2723120718

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847844107

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390420C>T , CM000673.2:g.6390420C>T	GRCh38
NC_000011.9:g.6411650C>T , CM000673.1:g.6411650C>T	GRCh37
NC_000011.8:g.6368226C>T	NCBI36
NG_011780.1:g.4996C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.4:c.-179C>T	NP_000534.3:n.-179C>T
NM_001007593.2:c.-179C>T	NP_001007594.2:n.-179C>T
XM_005253075.3:c.-179C>T	XP_005253132.1:n.-179C>T
XM_011520303.1:c.-179C>T	XP_011518605.1:n.-179C>T
XM_011520304.1:c.-179C>T	XP_011518606.1:n.-179C>T
XR_930886.1:n.120C>T
NM_001318087.1:c.-179C>T	NP_001305016.1:n.-179C>T
NM_001318088.1:c.-1140C>T	NP_001305017.1:n.-1140C>T
NR_027400.2:n.7C>T
NR_134502.1:n.7C>T