Canonical Allele Identifier: CA2612220816

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390415-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390415G>A , CM000673.2:g.6390415G>A	GRCh38
NC_000011.9:g.6411645G>A , CM000673.1:g.6411645G>A	GRCh37
NC_000011.8:g.6368221G>A	NCBI36
NG_011780.1:g.4991G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.4:c.-184G>A	NP_000534.3:n.-184G>A
NM_001007593.2:c.-184G>A	NP_001007594.2:n.-184G>A
XM_005253075.3:c.-184G>A	XP_005253132.1:n.-184G>A
XM_011520303.1:c.-184G>A	XP_011518605.1:n.-184G>A
XM_011520304.1:c.-184G>A	XP_011518606.1:n.-184G>A
XR_930886.1:n.115G>A
NM_001318087.1:c.-184G>A	NP_001305016.1:n.-184G>A
NM_001318088.1:c.-1145G>A	NP_001305017.1:n.-1145G>A
NR_027400.2:n.2G>A
NR_134502.1:n.2G>A