Canonical Allele Identifier: CA679148459

Gene: SMPD1

Linked Data

• dbSNP Id: rs1216390296
• gnomAD v3: 11-6390432-G-A
• gnomAD v4: 11-6390432-G-A
• MyVariant Identifiers: chr11:g.6411662G>A (hg19) ; chr11:g.6390432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390432G>A , CM000673.2:g.6390432G>A	GRCh38
NC_000011.9:g.6411662G>A , CM000673.1:g.6411662G>A	GRCh37
NC_000011.8:g.6368238G>A	NCBI36
NG_011780.1:g.5008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-167G>A	ENSP00000340409.4:n.-167G>A
NM_000543.4:c.-167G>A	NP_000534.3:n.-167G>A
NM_001007593.2:c.-167G>A	NP_001007594.2:n.-167G>A
XM_005253075.3:c.-167G>A	XP_005253132.1:n.-167G>A
XM_011520303.1:c.-167G>A	XP_011518605.1:n.-167G>A
XM_011520304.1:c.-167G>A	XP_011518606.1:n.-167G>A
XR_930886.1:n.132G>A
NM_001318087.1:c.-167G>A	NP_001305016.1:n.-167G>A
NM_001318088.1:c.-1128G>A	NP_001305017.1:n.-1128G>A
NR_027400.2:n.19G>A
NR_134502.1:n.19G>A