Canonical Allele Identifier: CA449882996

Gene: ITPR3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2109T>C MANE Select	ENSP00000475177.1:p.His703=
ENST00000374316.9:c.2109T>C	ENSP00000363435.4:p.His703=
ENST00000605930.2:c.2109T>C	ENSP00000475177.1:p.His703=
NM_002224.3:c.2109T>C	NP_002215.2:p.His703=
XM_011514576.1:c.2178T>C	XP_011512878.1:p.His726=
XM_011514577.1:c.1926T>C	XP_011512879.1:p.His642=
XM_011514577.3:c.1926T>C	XP_011512879.1:p.His642=
XM_017010832.1:c.2109T>C	XP_016866321.1:p.His703=
NM_002224.4:c.2109T>C MANE Select	NP_002215.2:p.His703=