Canonical Allele Identifier: CA3760474

Gene: ITPR3

Linked Data

• dbSNP Id: rs779651299
• ExAC: 6:33636860 A / G
• gnomAD v2: 6-33636860-A-G
• gnomAD v4: 6-33669083-A-G
• MyVariant Identifiers: chr6:g.33636860A>G (hg19) ; chr6:g.33669083A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669083A>G , CM000668.2:g.33669083A>G	GRCh38
NC_000006.11:g.33636860A>G , CM000668.1:g.33636860A>G	GRCh37
NC_000006.10:g.33744838A>G	NCBI36
NG_027729.1:g.52705A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2116A>G MANE Select	ENSP00000475177.1:p.Lys706Glu
ENST00000374316.9:c.2116A>G	ENSP00000363435.4:p.Lys706Glu
ENST00000605930.2:c.2116A>G	ENSP00000475177.1:p.Lys706Glu
NM_002224.3:c.2116A>G	NP_002215.2:p.Lys706Glu
XM_011514576.1:c.2185A>G	XP_011512878.1:p.Lys729Glu
XM_011514577.1:c.1933A>G	XP_011512879.1:p.Lys645Glu
XM_011514577.3:c.1933A>G	XP_011512879.1:p.Lys645Glu
XM_017010832.1:c.2116A>G	XP_016866321.1:p.Lys706Glu
NM_002224.4:c.2116A>G MANE Select	NP_002215.2:p.Lys706Glu