Canonical Allele Identifier: CA2678292607

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33668731-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33668731C>G , CM000668.2:g.33668731C>G	GRCh38
NC_000006.11:g.33636508C>G , CM000668.1:g.33636508C>G	GRCh37
NC_000006.10:g.33744486C>G	NCBI36
NG_027729.1:g.52353C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2006+97C>G MANE Select	ENSP00000475177.1:n.2006+97C>G
ENST00000374316.9:c.2006+97C>G	ENSP00000363435.4:n.2006+97C>G
ENST00000605930.2:c.2006+97C>G	ENSP00000475177.1:n.2006+97C>G
NM_002224.3:c.2006+97C>G	NP_002215.2:n.2006+97C>G
XM_011514576.1:c.2075+97C>G	XP_011512878.1:n.2075+97C>G
XM_011514577.1:c.1823+97C>G	XP_011512879.1:n.1823+97C>G
XM_011514577.3:c.1823+97C>G	XP_011512879.1:n.1823+97C>G
XM_017010832.1:c.2006+97C>G	XP_016866321.1:n.2006+97C>G
NM_002224.4:c.2006+97C>G MANE Select	NP_002215.2:n.2006+97C>G