Canonical Allele Identifier: CA1950145409

Gene: SMPD1

Linked Data

• dbSNP Id: rs1590734056
• gnomAD v4: 11-6390301-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390301G>C , CM000673.2:g.6390301G>C	GRCh38
NC_000011.9:g.6411531G>C , CM000673.1:g.6411531G>C	GRCh37
NC_000011.8:g.6368107G>C	NCBI36
NG_011780.1:g.4877G>C

Transcript Alleles

HGVS	Amino-acid Change
XM_005253075.3:c.-298G>C	XP_005253132.1:n.-298G>C
XM_011520303.1:c.-298G>C	XP_011518605.1:n.-298G>C
XM_011520304.1:c.-298G>C	XP_011518606.1:n.-298G>C
XR_930886.1:n.1G>C