Canonical Allele Identifier: CA3760482
Gene: ITPR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2482191
ClinVar RCV Id: RCV004268363
dbSNP Id: rs373777173
ExAC: 6:33636891 G / A
gnomAD v2: 6-33636891-G-A
gnomAD v3: 6-33669114-G-A
gnomAD v4: 6-33669114-G-A
MyVariant Identifiers: chr6:g.33636891G>A (hg19) chr6:g.33669114G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669114G>A , CM000668.2:g.33669114G>A GRCh38
NC_000006.11:g.33636891G>A , CM000668.1:g.33636891G>A GRCh37
NC_000006.10:g.33744869G>A NCBI36
NG_027729.1:g.52736G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2147G>A MANE Select ENSP00000475177.1:p.Arg716Gln
ENST00000374316.9:c.2147G>A ENSP00000363435.4:p.Arg716Gln
ENST00000605930.2:c.2147G>A ENSP00000475177.1:p.Arg716Gln
NM_002224.3:c.2147G>A NP_002215.2:p.Arg716Gln
XM_011514576.1:c.2216G>A XP_011512878.1:p.Arg739Gln
XM_011514577.1:c.1964G>A XP_011512879.1:p.Arg655Gln
XM_011514577.3:c.1964G>A XP_011512879.1:p.Arg655Gln
XM_017010832.1:c.2147G>A XP_016866321.1:p.Arg716Gln
NM_002224.4:c.2147G>A MANE Select NP_002215.2:p.Arg716Gln
Search 100 bp 5'
Search 100 bp 3'