Canonical Allele Identifier: CA2612220721
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390357-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390357G>T , CM000673.2:g.6390357G>T GRCh38
NC_000011.9:g.6411587G>T , CM000673.1:g.6411587G>T GRCh37
NC_000011.8:g.6368163G>T NCBI36
NG_011780.1:g.4933G>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-242G>T XP_005253132.1:n.-242G>T
XM_011520303.1:c.-242G>T XP_011518605.1:n.-242G>T
XM_011520304.1:c.-242G>T XP_011518606.1:n.-242G>T
XR_930886.1:n.57G>T