Canonical Allele Identifier: CA2612220812
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390412-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390412T>G , CM000673.2:g.6390412T>G GRCh38
NC_000011.9:g.6411642T>G , CM000673.1:g.6411642T>G GRCh37
NC_000011.8:g.6368218T>G NCBI36
NG_011780.1:g.4988T>G

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-187T>G XP_005253132.1:n.-187T>G
XM_011520303.1:c.-187T>G XP_011518605.1:n.-187T>G
XM_011520304.1:c.-187T>G XP_011518606.1:n.-187T>G
XR_930886.1:n.112T>G