Canonical Allele Identifier: CA2678292788

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33668918-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33668918T>C , CM000668.2:g.33668918T>C	GRCh38
NC_000006.11:g.33636695T>C , CM000668.1:g.33636695T>C	GRCh37
NC_000006.10:g.33744673T>C	NCBI36
NG_027729.1:g.52540T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000605930.3:c.2007-56T>C MANE Select	ENSP00000475177.1:n.2007-56T>C
ENST00000374316.9:c.2007-56T>C	ENSP00000363435.4:n.2007-56T>C
ENST00000605930.2:c.2007-56T>C	ENSP00000475177.1:n.2007-56T>C
NM_002224.3:c.2007-56T>C	NP_002215.2:n.2007-56T>C
XM_011514576.1:c.2076-56T>C	XP_011512878.1:n.2076-56T>C
XM_011514577.1:c.1824-56T>C	XP_011512879.1:n.1824-56T>C
XM_011514577.3:c.1824-56T>C	XP_011512879.1:n.1824-56T>C
XM_017010832.1:c.2007-56T>C	XP_016866321.1:n.2007-56T>C
NM_002224.4:c.2007-56T>C MANE Select	NP_002215.2:n.2007-56T>C