Canonical Allele Identifier: CA1950145521

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847845490

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390464G>C , CM000673.2:g.6390464G>C	GRCh38
NC_000011.9:g.6411694G>C , CM000673.1:g.6411694G>C	GRCh37
NC_000011.8:g.6368270G>C	NCBI36
NG_011780.1:g.5040G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-135G>C	ENSP00000340409.4:n.-135G>C
ENST00000530395.1:c.-271G>C	ENSP00000431479.1:n.-271G>C
ENST00000533196.1:n.25G>C
NM_000543.4:c.-135G>C	NP_000534.3:n.-135G>C
NM_001007593.2:c.-135G>C	NP_001007594.2:n.-135G>C
XM_005253075.3:c.-135G>C	XP_005253132.1:n.-135G>C
XM_011520303.1:c.-135G>C	XP_011518605.1:n.-135G>C
XM_011520304.1:c.-135G>C	XP_011518606.1:n.-135G>C
XR_930886.1:n.164G>C
NM_001318087.1:c.-135G>C	NP_001305016.1:n.-135G>C
NM_001318088.1:c.-1096G>C	NP_001305017.1:n.-1096G>C
NR_027400.2:n.51G>C
NR_134502.1:n.51G>C