Canonical Allele Identifier: CA363697654

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33669011-T-C
• MyVariant Identifiers: chr6:g.33636788T>C (hg19) ; chr6:g.33669011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669011T>C , CM000668.2:g.33669011T>C	GRCh38
NC_000006.11:g.33636788T>C , CM000668.1:g.33636788T>C	GRCh37
NC_000006.10:g.33744766T>C	NCBI36
NG_027729.1:g.52633T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2044T>C MANE Select	ENSP00000475177.1:p.Tyr682His
ENST00000374316.9:c.2044T>C	ENSP00000363435.4:p.Tyr682His
ENST00000605930.2:c.2044T>C	ENSP00000475177.1:p.Tyr682His
NM_002224.3:c.2044T>C	NP_002215.2:p.Tyr682His
XM_011514576.1:c.2113T>C	XP_011512878.1:p.Tyr705His
XM_011514577.1:c.1861T>C	XP_011512879.1:p.Tyr621His
XM_011514577.3:c.1861T>C	XP_011512879.1:p.Tyr621His
XM_017010832.1:c.2044T>C	XP_016866321.1:p.Tyr682His
NM_002224.4:c.2044T>C MANE Select	NP_002215.2:p.Tyr682His