Canonical Allele Identifier: CA2612220699
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390346-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390346G>C , CM000673.2:g.6390346G>C GRCh38
NC_000011.9:g.6411576G>C , CM000673.1:g.6411576G>C GRCh37
NC_000011.8:g.6368152G>C NCBI36
NG_011780.1:g.4922G>C

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-253G>C XP_005253132.1:n.-253G>C
XM_011520303.1:c.-253G>C XP_011518605.1:n.-253G>C
XM_011520304.1:c.-253G>C XP_011518606.1:n.-253G>C
XR_930886.1:n.46G>C
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