Canonical Allele Identifier: CA934779089
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v3: 11-6390392-A-G
gnomAD v4: 11-6390392-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390392A>G , CM000673.2:g.6390392A>G GRCh38
NC_000011.9:g.6411622A>G , CM000673.1:g.6411622A>G GRCh37
NC_000011.8:g.6368198A>G NCBI36
NG_011780.1:g.4968A>G

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-207A>G XP_005253132.1:n.-207A>G
XM_011520303.1:c.-207A>G XP_011518605.1:n.-207A>G
XM_011520304.1:c.-207A>G XP_011518606.1:n.-207A>G
XR_930886.1:n.92A>G