Canonical Allele Identifier: CA217298800

Gene: SMPD1

Linked Data

• dbSNP Id: rs1001668925
• gnomAD v3: 11-6390323-G-A
• gnomAD v4: 11-6390323-G-A
• MyVariant Identifiers: chr11:g.6411553G>A (hg19) ; chr11:g.6390323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390323G>A , CM000673.2:g.6390323G>A	GRCh38
NC_000011.9:g.6411553G>A , CM000673.1:g.6411553G>A	GRCh37
NC_000011.8:g.6368129G>A	NCBI36
NG_011780.1:g.4899G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_005253075.3:c.-276G>A	XP_005253132.1:n.-276G>A
XM_011520303.1:c.-276G>A	XP_011518605.1:n.-276G>A
XM_011520304.1:c.-276G>A	XP_011518606.1:n.-276G>A
XR_930886.1:n.23G>A