Canonical Allele Identifier: CA2612220646
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390319-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390319G>T , CM000673.2:g.6390319G>T GRCh38
NC_000011.9:g.6411549G>T , CM000673.1:g.6411549G>T GRCh37
NC_000011.8:g.6368125G>T NCBI36
NG_011780.1:g.4895G>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-280G>T XP_005253132.1:n.-280G>T
XM_011520303.1:c.-280G>T XP_011518605.1:n.-280G>T
XM_011520304.1:c.-280G>T XP_011518606.1:n.-280G>T
XR_930886.1:n.19G>T