Canonical Allele Identifier: CA824060804

Gene: ITPR3

Linked Data

• dbSNP Id: rs1390454478
• gnomAD v3: 6-33650250-G-T
• gnomAD v4: 6-33650250-G-T
• MyVariant Identifiers: chr6:g.33618027G>T (hg19) ; chr6:g.33650250G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33650250G>T , CM000668.2:g.33650250G>T	GRCh38
NC_000006.11:g.33618027G>T , CM000668.1:g.33618027G>T	GRCh37
NC_000006.10:g.33726005G>T	NCBI36
NG_027729.1:g.33872G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000605930.3:c.161-5516G>T MANE Select	ENSP00000475177.1:n.161-5516G>T
ENST00000374316.9:c.161-5516G>T	ENSP00000363435.4:n.161-5516G>T
ENST00000605930.2:c.161-5516G>T	ENSP00000475177.1:n.161-5516G>T
NM_002224.3:c.161-5516G>T	NP_002215.2:n.161-5516G>T
XM_011514576.1:c.230-5516G>T	XP_011512878.1:n.230-5516G>T
XM_017010832.1:c.161-5516G>T	XP_016866321.1:n.161-5516G>T
NM_002224.4:c.161-5516G>T MANE Select	NP_002215.2:n.161-5516G>T