Canonical Allele Identifier: CA217298821

Gene: SMPD1

Linked Data

• dbSNP Id: rs948943994
• gnomAD v2: 11-6411631-C-G
• gnomAD v3: 11-6390401-C-G
• gnomAD v4: 11-6390401-C-G
• MyVariant Identifiers: chr11:g.6411631C>G (hg19) ; chr11:g.6390401C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390401C>G , CM000673.2:g.6390401C>G	GRCh38
NC_000011.9:g.6411631C>G , CM000673.1:g.6411631C>G	GRCh37
NC_000011.8:g.6368207C>G	NCBI36
NG_011780.1:g.4977C>G

Transcript Alleles

HGVS	Amino-acid Change
XM_005253075.3:c.-198C>G	XP_005253132.1:n.-198C>G
XM_011520303.1:c.-198C>G	XP_011518605.1:n.-198C>G
XM_011520304.1:c.-198C>G	XP_011518606.1:n.-198C>G
XR_930886.1:n.101C>G