Canonical Allele Identifier: CA363697944

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33669076-T-A
• MyVariant Identifiers: chr6:g.33636853T>A (hg19) ; chr6:g.33669076T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669076T>A , CM000668.2:g.33669076T>A	GRCh38
NC_000006.11:g.33636853T>A , CM000668.1:g.33636853T>A	GRCh37
NC_000006.10:g.33744831T>A	NCBI36
NG_027729.1:g.52698T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2109T>A MANE Select	ENSP00000475177.1:p.His703Gln
ENST00000374316.9:c.2109T>A	ENSP00000363435.4:p.His703Gln
ENST00000605930.2:c.2109T>A	ENSP00000475177.1:p.His703Gln
NM_002224.3:c.2109T>A	NP_002215.2:p.His703Gln
XM_011514576.1:c.2178T>A	XP_011512878.1:p.His726Gln
XM_011514577.1:c.1926T>A	XP_011512879.1:p.His642Gln
XM_011514577.3:c.1926T>A	XP_011512879.1:p.His642Gln
XM_017010832.1:c.2109T>A	XP_016866321.1:p.His703Gln
NM_002224.4:c.2109T>A MANE Select	NP_002215.2:p.His703Gln