Canonical Allele Identifier: CA1950145461
Gene: SMPD1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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