Canonical Allele Identifier: CA217298807

Gene: SMPD1

Linked Data

• dbSNP Id: rs577729042
• gnomAD v3: 11-6390356-G-A
• gnomAD v4: 11-6390356-G-A
• MyVariant Identifiers: chr11:g.6411586G>A (hg19) ; chr11:g.6390356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390356G>A , CM000673.2:g.6390356G>A	GRCh38
NC_000011.9:g.6411586G>A , CM000673.1:g.6411586G>A	GRCh37
NC_000011.8:g.6368162G>A	NCBI36
NG_011780.1:g.4932G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_005253075.3:c.-243G>A	XP_005253132.1:n.-243G>A
XM_011520303.1:c.-243G>A	XP_011518605.1:n.-243G>A
XM_011520304.1:c.-243G>A	XP_011518606.1:n.-243G>A
XR_930886.1:n.56G>A