Canonical Allele Identifier: CA2612220725
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390359-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390359G>T , CM000673.2:g.6390359G>T GRCh38
NC_000011.9:g.6411589G>T , CM000673.1:g.6411589G>T GRCh37
NC_000011.8:g.6368165G>T NCBI36
NG_011780.1:g.4935G>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-240G>T XP_005253132.1:n.-240G>T
XM_011520303.1:c.-240G>T XP_011518605.1:n.-240G>T
XM_011520304.1:c.-240G>T XP_011518606.1:n.-240G>T
XR_930886.1:n.59G>T