Canonical Allele Identifier: CA217298817
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs368203665
gnomAD v2: 11-6411616-G-T
gnomAD v3: 11-6390386-G-T
gnomAD v4: 11-6390386-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390386G>T , CM000673.2:g.6390386G>T GRCh38
NC_000011.9:g.6411616G>T , CM000673.1:g.6411616G>T GRCh37
NC_000011.8:g.6368192G>T NCBI36
NG_011780.1:g.4962G>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-213G>T XP_005253132.1:n.-213G>T
XM_011520303.1:c.-213G>T XP_011518605.1:n.-213G>T
XM_011520304.1:c.-213G>T XP_011518606.1:n.-213G>T
XR_930886.1:n.86G>T