Canonical Allele Identifier: CA2612220852
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390444-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390444G>T , CM000673.2:g.6390444G>T GRCh38
NC_000011.9:g.6411674G>T , CM000673.1:g.6411674G>T GRCh37
NC_000011.8:g.6368250G>T NCBI36
NG_011780.1:g.5020G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.8:c.-155G>T ENSP00000340409.4:n.-155G>T
ENST00000533196.1:n.5G>T
NM_000543.4:c.-155G>T NP_000534.3:n.-155G>T
NM_001007593.2:c.-155G>T NP_001007594.2:n.-155G>T
XM_005253075.3:c.-155G>T XP_005253132.1:n.-155G>T
XM_011520303.1:c.-155G>T XP_011518605.1:n.-155G>T
XM_011520304.1:c.-155G>T XP_011518606.1:n.-155G>T
XR_930886.1:n.144G>T
NM_001318087.1:c.-155G>T NP_001305016.1:n.-155G>T
NM_001318088.1:c.-1116G>T NP_001305017.1:n.-1116G>T
NR_027400.2:n.31G>T
NR_134502.1:n.31G>T