Canonical Allele Identifier: CA2678292649

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33668777-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33668777C>A , CM000668.2:g.33668777C>A	GRCh38
NC_000006.11:g.33636554C>A , CM000668.1:g.33636554C>A	GRCh37
NC_000006.10:g.33744532C>A	NCBI36
NG_027729.1:g.52399C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2006+143C>A MANE Select	ENSP00000475177.1:n.2006+143C>A
ENST00000374316.9:c.2006+143C>A	ENSP00000363435.4:n.2006+143C>A
ENST00000605930.2:c.2006+143C>A	ENSP00000475177.1:n.2006+143C>A
NM_002224.3:c.2006+143C>A	NP_002215.2:n.2006+143C>A
XM_011514576.1:c.2075+143C>A	XP_011512878.1:n.2075+143C>A
XM_011514577.1:c.1823+143C>A	XP_011512879.1:n.1823+143C>A
XM_011514577.3:c.1823+143C>A	XP_011512879.1:n.1823+143C>A
XM_017010832.1:c.2006+143C>A	XP_016866321.1:n.2006+143C>A
NM_002224.4:c.2006+143C>A MANE Select	NP_002215.2:n.2006+143C>A