Canonical Allele Identifier: CA2506257252

Gene: ITPR3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33668750T>A , CM000668.2:g.33668750T>A	GRCh38
NC_000006.11:g.33636527T>A , CM000668.1:g.33636527T>A	GRCh37
NC_000006.10:g.33744505T>A	NCBI36
NG_027729.1:g.52372T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2006+116T>A MANE Select	ENSP00000475177.1:n.2006+116T>A
ENST00000374316.9:c.2006+116T>A	ENSP00000363435.4:n.2006+116T>A
ENST00000605930.2:c.2006+116T>A	ENSP00000475177.1:n.2006+116T>A
NM_002224.3:c.2006+116T>A	NP_002215.2:n.2006+116T>A
XM_011514576.1:c.2075+116T>A	XP_011512878.1:n.2075+116T>A
XM_011514577.1:c.1823+116T>A	XP_011512879.1:n.1823+116T>A
XM_011514577.3:c.1823+116T>A	XP_011512879.1:n.1823+116T>A
XM_017010832.1:c.2006+116T>A	XP_016866321.1:n.2006+116T>A
NM_002224.4:c.2006+116T>A MANE Select	NP_002215.2:n.2006+116T>A