Canonical Allele Identifier: CA2612220836
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390430-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390430A>T , CM000673.2:g.6390430A>T GRCh38
NC_000011.9:g.6411660A>T , CM000673.1:g.6411660A>T GRCh37
NC_000011.8:g.6368236A>T NCBI36
NG_011780.1:g.5006A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000543.4:c.-169A>T NP_000534.3:n.-169A>T
NM_001007593.2:c.-169A>T NP_001007594.2:n.-169A>T
XM_005253075.3:c.-169A>T XP_005253132.1:n.-169A>T
XM_011520303.1:c.-169A>T XP_011518605.1:n.-169A>T
XM_011520304.1:c.-169A>T XP_011518606.1:n.-169A>T
XR_930886.1:n.130A>T
NM_001318087.1:c.-169A>T NP_001305016.1:n.-169A>T
NM_001318088.1:c.-1130A>T NP_001305017.1:n.-1130A>T
NR_027400.2:n.17A>T
NR_134502.1:n.17A>T