Canonical Allele Identifier: CA363698050

Gene: ITPR3

Linked Data

• dbSNP Id: rs1184787172
• gnomAD v3: 6-33669098-C-G
• gnomAD v4: 6-33669098-C-G
• MyVariant Identifiers: chr6:g.33636875C>G (hg19) ; chr6:g.33669098C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669098C>G , CM000668.2:g.33669098C>G	GRCh38
NC_000006.11:g.33636875C>G , CM000668.1:g.33636875C>G	GRCh37
NC_000006.10:g.33744853C>G	NCBI36
NG_027729.1:g.52720C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2131C>G MANE Select	ENSP00000475177.1:p.Leu711Val
ENST00000374316.9:c.2131C>G	ENSP00000363435.4:p.Leu711Val
ENST00000605930.2:c.2131C>G	ENSP00000475177.1:p.Leu711Val
NM_002224.3:c.2131C>G	NP_002215.2:p.Leu711Val
XM_011514576.1:c.2200C>G	XP_011512878.1:p.Leu734Val
XM_011514577.1:c.1948C>G	XP_011512879.1:p.Leu650Val
XM_011514577.3:c.1948C>G	XP_011512879.1:p.Leu650Val
XM_017010832.1:c.2131C>G	XP_016866321.1:p.Leu711Val
NM_002224.4:c.2131C>G MANE Select	NP_002215.2:p.Leu711Val