Canonical Allele Identifier: CA3760464

Gene: ITPR3

Linked Data

• ClinVar Variation Id: 792174
• ClinVar RCV Id: RCV000975261
• dbSNP Id: rs759721342
• ExAC: 6:33636791 C / T
• gnomAD v2: 6-33636791-C-T
• gnomAD v3: 6-33669014-C-T
• gnomAD v4: 6-33669014-C-T
• MyVariant Identifiers: chr6:g.33636791C>T (hg19) ; chr6:g.33669014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669014C>T , CM000668.2:g.33669014C>T	GRCh38
NC_000006.11:g.33636791C>T , CM000668.1:g.33636791C>T	GRCh37
NC_000006.10:g.33744769C>T	NCBI36
NG_027729.1:g.52636C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2047C>T MANE Select	ENSP00000475177.1:p.Leu683=
ENST00000374316.9:c.2047C>T	ENSP00000363435.4:p.Leu683=
ENST00000605930.2:c.2047C>T	ENSP00000475177.1:p.Leu683=
NM_002224.3:c.2047C>T	NP_002215.2:p.Leu683=
XM_011514576.1:c.2116C>T	XP_011512878.1:p.Leu706=
XM_011514577.1:c.1864C>T	XP_011512879.1:p.Leu622=
XM_011514577.3:c.1864C>T	XP_011512879.1:p.Leu622=
XM_017010832.1:c.2047C>T	XP_016866321.1:p.Leu683=
NM_002224.4:c.2047C>T MANE Select	NP_002215.2:p.Leu683=