Canonical Allele Identifier: CA1950145522
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390465C= , CM000673.2:g.6390465C= GRCh38
NC_000011.9:g.6411695C= , CM000673.1:g.6411695C= GRCh37
NC_000011.8:g.6368271C= NCBI36
NG_011780.1:g.5041C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.8:c.-134C= ENSP00000340409.4:n.-134C=
ENST00000530395.1:c.-270C= ENSP00000431479.1:n.-270C=
ENST00000533196.1:n.26C=
NM_000543.4:c.-134C= NP_000534.3:n.-134C=
NM_001007593.2:c.-134C= NP_001007594.2:n.-134C=
XM_005253075.3:c.-134C= XP_005253132.1:n.-134C=
XM_011520303.1:c.-134C= XP_011518605.1:n.-134C=
XM_011520304.1:c.-134C= XP_011518606.1:n.-134C=
XR_930886.1:n.165C=
NM_001318087.1:c.-134C= NP_001305016.1:n.-134C=
NM_001318088.1:c.-1095C= NP_001305017.1:n.-1095C=
NR_027400.2:n.52C=
NR_134502.1:n.52C=