Canonical Allele Identifier: CA3760479

Gene: ITPR3

Linked Data

• dbSNP Id: rs771869292
• ExAC: 6:33636888 C / A
• gnomAD v2: 6-33636888-C-A
• gnomAD v4: 6-33669111-C-A
• MyVariant Identifiers: chr6:g.33636888C>A (hg19) ; chr6:g.33669111C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669111C>A , CM000668.2:g.33669111C>A	GRCh38
NC_000006.11:g.33636888C>A , CM000668.1:g.33636888C>A	GRCh37
NC_000006.10:g.33744866C>A	NCBI36
NG_027729.1:g.52733C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2144C>A MANE Select	ENSP00000475177.1:p.Ala715Glu
ENST00000374316.9:c.2144C>A	ENSP00000363435.4:p.Ala715Glu
ENST00000605930.2:c.2144C>A	ENSP00000475177.1:p.Ala715Glu
NM_002224.3:c.2144C>A	NP_002215.2:p.Ala715Glu
XM_011514576.1:c.2213C>A	XP_011512878.1:p.Ala738Glu
XM_011514577.1:c.1961C>A	XP_011512879.1:p.Ala654Glu
XM_011514577.3:c.1961C>A	XP_011512879.1:p.Ala654Glu
XM_017010832.1:c.2144C>A	XP_016866321.1:p.Ala715Glu
NM_002224.4:c.2144C>A MANE Select	NP_002215.2:p.Ala715Glu