Canonical Allele Identifier: CA2612220744
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs2134003406
gnomAD v4: 11-6390367-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390367C>T , CM000673.2:g.6390367C>T GRCh38
NC_000011.9:g.6411597C>T , CM000673.1:g.6411597C>T GRCh37
NC_000011.8:g.6368173C>T NCBI36
NG_011780.1:g.4943C>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-232C>T XP_005253132.1:n.-232C>T
XM_011520303.1:c.-232C>T XP_011518605.1:n.-232C>T
XM_011520304.1:c.-232C>T XP_011518606.1:n.-232C>T
XR_930886.1:n.67C>T
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