Canonical Allele Identifier: CA363698017

Gene: ITPR3

Linked Data

• MyVariant Identifiers: chr6:g.33636867T>A (hg19) ; chr6:g.33669090T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669090T>A , CM000668.2:g.33669090T>A	GRCh38
NC_000006.11:g.33636867T>A , CM000668.1:g.33636867T>A	GRCh37
NC_000006.10:g.33744845T>A	NCBI36
NG_027729.1:g.52712T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2123T>A MANE Select	ENSP00000475177.1:p.Val708Glu
ENST00000374316.9:c.2123T>A	ENSP00000363435.4:p.Val708Glu
ENST00000605930.2:c.2123T>A	ENSP00000475177.1:p.Val708Glu
NM_002224.3:c.2123T>A	NP_002215.2:p.Val708Glu
XM_011514576.1:c.2192T>A	XP_011512878.1:p.Val731Glu
XM_011514577.1:c.1940T>A	XP_011512879.1:p.Val647Glu
XM_011514577.3:c.1940T>A	XP_011512879.1:p.Val647Glu
XM_017010832.1:c.2123T>A	XP_016866321.1:p.Val708Glu
NM_002224.4:c.2123T>A MANE Select	NP_002215.2:p.Val708Glu