Canonical Allele Identifier: CA217298816
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs368203665
gnomAD v2: 11-6411616-G-A
gnomAD v3: 11-6390386-G-A
gnomAD v4: 11-6390386-G-A
MyVariant Identifiers: chr11:g.6411616G>A (hg19) chr11:g.6390386G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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