Canonical Allele Identifier: CA2678292670

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33668830-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33668830G>T , CM000668.2:g.33668830G>T	GRCh38
NC_000006.11:g.33636607G>T , CM000668.1:g.33636607G>T	GRCh37
NC_000006.10:g.33744585G>T	NCBI36
NG_027729.1:g.52452G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2007-144G>T MANE Select	ENSP00000475177.1:n.2007-144G>T
ENST00000374316.9:c.2007-144G>T	ENSP00000363435.4:n.2007-144G>T
ENST00000605930.2:c.2007-144G>T	ENSP00000475177.1:n.2007-144G>T
NM_002224.3:c.2007-144G>T	NP_002215.2:n.2007-144G>T
XM_011514576.1:c.2076-144G>T	XP_011512878.1:n.2076-144G>T
XM_011514577.1:c.1824-144G>T	XP_011512879.1:n.1824-144G>T
XM_011514577.3:c.1824-144G>T	XP_011512879.1:n.1824-144G>T
XM_017010832.1:c.2007-144G>T	XP_016866321.1:n.2007-144G>T
NM_002224.4:c.2007-144G>T MANE Select	NP_002215.2:n.2007-144G>T