Canonical Allele Identifier: CA2612220752
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390370-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390370C>T , CM000673.2:g.6390370C>T GRCh38
NC_000011.9:g.6411600C>T , CM000673.1:g.6411600C>T GRCh37
NC_000011.8:g.6368176C>T NCBI36
NG_011780.1:g.4946C>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-229C>T XP_005253132.1:n.-229C>T
XM_011520303.1:c.-229C>T XP_011518605.1:n.-229C>T
XM_011520304.1:c.-229C>T XP_011518606.1:n.-229C>T
XR_930886.1:n.70C>T