Canonical Allele Identifier: CA217298827
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs985705325
gnomAD v4: 11-6390421-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390421A>C , CM000673.2:g.6390421A>C GRCh38
NC_000011.9:g.6411651A>C , CM000673.1:g.6411651A>C GRCh37
NC_000011.8:g.6368227A>C NCBI36
NG_011780.1:g.4997A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000543.4:c.-178A>C NP_000534.3:n.-178A>C
NM_001007593.2:c.-178A>C NP_001007594.2:n.-178A>C
XM_005253075.3:c.-178A>C XP_005253132.1:n.-178A>C
XM_011520303.1:c.-178A>C XP_011518605.1:n.-178A>C
XM_011520304.1:c.-178A>C XP_011518606.1:n.-178A>C
XR_930886.1:n.121A>C
NM_001318087.1:c.-178A>C NP_001305016.1:n.-178A>C
NM_001318088.1:c.-1139A>C NP_001305017.1:n.-1139A>C
NR_027400.2:n.8A>C
NR_134502.1:n.8A>C