Canonical Allele Identifier: CA614336

Gene: CASP9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15492997C>A , CM000663.2:g.15492997C>A	GRCh38
NC_000001.10:g.15819492C>A , CM000663.1:g.15819492C>A	GRCh37
NC_000001.9:g.15692079C>A	NCBI36
NG_029188.1:g.36794G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001229.5:c.1197G>T MANE Select	NP_001220.2:p.Gln399His
ENST00000333868.10:c.1197G>T MANE Select	ENSP00000330237.5:p.Gln399His
NM_001229.4:c.1197G>T	NP_001220.2:p.Gln399His
NM_001278054.1:c.747G>T	NP_001264983.1:p.Gln249His
NM_001278054.2:c.747G>T	NP_001264983.1:p.Gln249His
NM_032996.3:c.948G>T	NP_127463.2:p.Gln316His
NR_102732.1:n.1500G>T
NR_102732.2:n.1270G>T
NR_102733.1:n.1302G>T
NR_102733.2:n.1072G>T
ENST00000333868.9:c.1197G>T	ENSP00000330237.5:p.Gln399His
ENST00000348549.9:c.747G>T	ENSP00000255256.7:p.Gln249His
ENST00000375890.8:c.948G>T	ENSP00000365051.4:p.Gln316His
ENST00000400777.7:c.1247G>T
ENST00000424908.5:c.541G>T
ENST00000474305.2:c.1057G>T	ENSP00000449216.1:n.1057G>T
ENST00000546424.5:c.*787G>T	ENSP00000449584.1:n.*787G>T
XM_005246014.2:c.948G>T	XP_005246071.1:p.Gln316His
XM_011542271.1:c.948G>T	XP_011540573.1:p.Gln316His
XM_011542272.1:c.948G>T	XP_011540574.1:p.Gln316His
XR_946778.1:n.1124G>T