Canonical Allele Identifier: CA2612220749
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390369-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390369C>T , CM000673.2:g.6390369C>T GRCh38
NC_000011.9:g.6411599C>T , CM000673.1:g.6411599C>T GRCh37
NC_000011.8:g.6368175C>T NCBI36
NG_011780.1:g.4945C>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-230C>T XP_005253132.1:n.-230C>T
XM_011520303.1:c.-230C>T XP_011518605.1:n.-230C>T
XM_011520304.1:c.-230C>T XP_011518606.1:n.-230C>T
XR_930886.1:n.69C>T