Canonical Allele Identifier: CA18243782
Gene: CASP9 HGNC NCBI

Linked Data

dbSNP Id: rs1000635063
gnomAD v2: 1-15834280-C-T
gnomAD v3: 1-15507785-C-T
gnomAD v4: 1-15507785-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15507785C>T , CM000663.2:g.15507785C>T GRCh38
NC_000001.10:g.15834280C>T , CM000663.1:g.15834280C>T GRCh37
NC_000001.9:g.15706867C>T NCBI36
NG_029188.1:g.22006G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000333868.10:c.453+88G>A MANE Select ENSP00000330237.5:n.453+88G>A
ENST00000333868.9:c.453+88G>A ENSP00000330237.5:n.453+88G>A
ENST00000348549.9:c.418+10325G>A ENSP00000255256.7:n.418+10325G>A
ENST00000375890.8:c.204+88G>A ENSP00000365051.4:n.204+88G>A
ENST00000400777.7:c.445+88G>A
ENST00000440484.1:c.453+88G>A ENSP00000411304.1:n.453+88G>A
ENST00000447522.5:c.204+88G>A ENSP00000396540.1:n.204+88G>A
ENST00000474305.2:c.313+88G>A ENSP00000449216.1:n.313+88G>A
ENST00000546424.5:c.453+88G>A ENSP00000449584.1:n.453+88G>A
ENST00000546969.1:n.556G>A
NM_001229.4:c.453+88G>A NP_001220.2:n.453+88G>A
NM_001278054.1:c.418+10325G>A NP_001264983.1:n.418+10325G>A
NM_032996.3:c.204+88G>A NP_127463.2:n.204+88G>A
NR_102732.1:n.698+88G>A
NR_102733.1:n.558+88G>A
XM_005246014.2:c.204+88G>A XP_005246071.1:n.204+88G>A
XM_011542270.1:c.453+88G>A XP_011540572.1:n.453+88G>A
XM_011542271.1:c.204+88G>A XP_011540573.1:n.204+88G>A
XM_011542272.1:c.204+88G>A XP_011540574.1:n.204+88G>A
XM_011542273.1:c.453+88G>A XP_011540575.1:n.453+88G>A
XR_946778.1:n.618+88G>A
XM_011542273.3:c.453+88G>A XP_011540575.1:n.453+88G>A
NM_001229.5:c.453+88G>A MANE Select NP_001220.2:n.453+88G>A
NM_001278054.2:c.418+10325G>A NP_001264983.1:n.418+10325G>A
NR_102732.2:n.468+88G>A
NR_102733.2:n.328+88G>A