Canonical Allele Identifier: CA679148361

Gene: SMPD1

Linked Data

• dbSNP Id: rs1203695373
• gnomAD v4: 11-6390349-G-C
• MyVariant Identifiers: chr11:g.6411579G>C (hg19) ; chr11:g.6390349G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390349G>C , CM000673.2:g.6390349G>C	GRCh38
NC_000011.9:g.6411579G>C , CM000673.1:g.6411579G>C	GRCh37
NC_000011.8:g.6368155G>C	NCBI36
NG_011780.1:g.4925G>C

Transcript Alleles

HGVS	Amino-acid Change
XM_005253075.3:c.-250G>C	XP_005253132.1:n.-250G>C
XM_011520303.1:c.-250G>C	XP_011518605.1:n.-250G>C
XM_011520304.1:c.-250G>C	XP_011518606.1:n.-250G>C
XR_930886.1:n.49G>C