Canonical Allele Identifier: CA137130391

Gene: ITPR3

Linked Data

• dbSNP Id: rs914447965
• gnomAD v2: 6-33636581-T-G
• gnomAD v3: 6-33668804-T-G
• gnomAD v4: 6-33668804-T-G
• MyVariant Identifiers: chr6:g.33636581T>G (hg19) ; chr6:g.33668804T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33668804T>G , CM000668.2:g.33668804T>G	GRCh38
NC_000006.11:g.33636581T>G , CM000668.1:g.33636581T>G	GRCh37
NC_000006.10:g.33744559T>G	NCBI36
NG_027729.1:g.52426T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2007-170T>G MANE Select	ENSP00000475177.1:n.2007-170T>G
ENST00000374316.9:c.2007-170T>G	ENSP00000363435.4:n.2007-170T>G
ENST00000605930.2:c.2007-170T>G	ENSP00000475177.1:n.2007-170T>G
NM_002224.3:c.2007-170T>G	NP_002215.2:n.2007-170T>G
XM_011514576.1:c.2076-170T>G	XP_011512878.1:n.2076-170T>G
XM_011514577.1:c.1824-170T>G	XP_011512879.1:n.1824-170T>G
XM_011514577.3:c.1824-170T>G	XP_011512879.1:n.1824-170T>G
XM_017010832.1:c.2007-170T>G	XP_016866321.1:n.2007-170T>G
NM_002224.4:c.2007-170T>G MANE Select	NP_002215.2:n.2007-170T>G