Canonical Allele Identifier: CA2612220824
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390422-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390422G>T , CM000673.2:g.6390422G>T GRCh38
NC_000011.9:g.6411652G>T , CM000673.1:g.6411652G>T GRCh37
NC_000011.8:g.6368228G>T NCBI36
NG_011780.1:g.4998G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000543.4:c.-177G>T NP_000534.3:n.-177G>T
NM_001007593.2:c.-177G>T NP_001007594.2:n.-177G>T
XM_005253075.3:c.-177G>T XP_005253132.1:n.-177G>T
XM_011520303.1:c.-177G>T XP_011518605.1:n.-177G>T
XM_011520304.1:c.-177G>T XP_011518606.1:n.-177G>T
XR_930886.1:n.122G>T
NM_001318087.1:c.-177G>T NP_001305016.1:n.-177G>T
NM_001318088.1:c.-1138G>T NP_001305017.1:n.-1138G>T
NR_027400.2:n.9G>T
NR_134502.1:n.9G>T