Canonical Allele Identifier: CA363698112

Gene: ITPR3

Linked Data

• dbSNP Id: rs1227842508
• gnomAD v2: 6-33636893-G-A
• MyVariant Identifiers: chr6:g.33636893G>A (hg19) ; chr6:g.33669116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669116G>A , CM000668.2:g.33669116G>A	GRCh38
NC_000006.11:g.33636893G>A , CM000668.1:g.33636893G>A	GRCh37
NC_000006.10:g.33744871G>A	NCBI36
NG_027729.1:g.52738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2149G>A MANE Select	ENSP00000475177.1:p.Ala717Thr
ENST00000374316.9:c.2149G>A	ENSP00000363435.4:p.Ala717Thr
ENST00000605930.2:c.2149G>A	ENSP00000475177.1:p.Ala717Thr
NM_002224.3:c.2149G>A	NP_002215.2:p.Ala717Thr
XM_011514576.1:c.2218G>A	XP_011512878.1:p.Ala740Thr
XM_011514577.1:c.1966G>A	XP_011512879.1:p.Ala656Thr
XM_011514577.3:c.1966G>A	XP_011512879.1:p.Ala656Thr
XM_017010832.1:c.2149G>A	XP_016866321.1:p.Ala717Thr
NM_002224.4:c.2149G>A MANE Select	NP_002215.2:p.Ala717Thr