Canonical Allele Identifier: CA2612220848

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390440-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390440A>C , CM000673.2:g.6390440A>C	GRCh38
NC_000011.9:g.6411670A>C , CM000673.1:g.6411670A>C	GRCh37
NC_000011.8:g.6368246A>C	NCBI36
NG_011780.1:g.5016A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-159A>C	ENSP00000340409.4:n.-159A>C
ENST00000533196.1:n.1A>C
NM_000543.4:c.-159A>C	NP_000534.3:n.-159A>C
NM_001007593.2:c.-159A>C	NP_001007594.2:n.-159A>C
XM_005253075.3:c.-159A>C	XP_005253132.1:n.-159A>C
XM_011520303.1:c.-159A>C	XP_011518605.1:n.-159A>C
XM_011520304.1:c.-159A>C	XP_011518606.1:n.-159A>C
XR_930886.1:n.140A>C
NM_001318087.1:c.-159A>C	NP_001305016.1:n.-159A>C
NM_001318088.1:c.-1120A>C	NP_001305017.1:n.-1120A>C
NR_027400.2:n.27A>C
NR_134502.1:n.27A>C