Canonical Allele Identifier: CA227456386
Community Standard Title: NC_000011.10:g.104897451C>T
Gene: CASP12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.104897451C>T , CM000673.2:g.104897451C>T GRCh38
NC_000011.9:g.104768178C>T , CM000673.1:g.104768178C>T GRCh37
NC_000011.8:g.104273388C>T NCBI36
NG_028201.2:g.6220G>A

Transcript Alleles

HGVS Amino-acid Change
NR_034061.2:n.281G>A
NR_034061.3:n.71G>A
NR_034063.2:n.281G>A
NR_034063.3:n.71G>A
NR_034064.2:n.281G>A
NR_034064.3:n.71G>A
NR_034065.2:n.281G>A
NR_034065.3:n.71G>A
NR_034066.2:n.263+957G>A
NR_034066.3:n.53+957G>A
NR_034067.2:n.281G>A
NR_034067.3:n.71G>A
NR_034068.2:n.263+957G>A
NR_034068.3:n.53+957G>A
NR_034070.2:n.281G>A
NR_034070.3:n.71G>A
NR_034071.2:n.281G>A
NR_034071.3:n.71G>A
ENST00000375726.6:c.25G>A ENSP00000424038.1:p.Gly9Ser
ENST00000417998.5:c.25G>A ENSP00000424963.1:p.Gly9Ser
ENST00000422698.6:c.25G>A ENSP00000427128.2:p.Gly9Ser
ENST00000433738.5:c.7+957G>A ENSP00000427437.1:n.7+957G>A
ENST00000441710.5:c.25G>A ENSP00000423970.1:p.Gly9Ser
ENST00000446862.5:c.25G>A ENSP00000425652.1:p.Gly9Ser
ENST00000447913.5:c.7+957G>A ENSP00000426427.1:n.7+957G>A
ENST00000448103.5:c.25G>A ENSP00000423899.1:p.Gly9Ser
ENST00000458137.5:c.25G>A ENSP00000421408.1:p.Gly9Ser
ENST00000494737.5:c.25G>A ENSP00000421815.1:p.Gly9Ser
ENST00000508062.1:c.7+957G>A ENSP00000426566.1:n.7+957G>A
ENST00000613512.4:c.25G>A ENSP00000482745.1:p.Gly9Ser
ENST00000703420.1:c.25G>A ENSP00000515267.1:p.Gly9Ser