Canonical Allele Identifier: CA363698077
Gene: ITPR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2370115
ClinVar RCV Id: RCV004209826
dbSNP Id: rs1355114188
gnomAD v2: 6-33636882-A-T
gnomAD v3: 6-33669105-A-T
gnomAD v4: 6-33669105-A-T
MyVariant Identifiers: chr6:g.33636882A>T (hg19) chr6:g.33669105A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669105A>T , CM000668.2:g.33669105A>T GRCh38
NC_000006.11:g.33636882A>T , CM000668.1:g.33636882A>T GRCh37
NC_000006.10:g.33744860A>T NCBI36
NG_027729.1:g.52727A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2138A>T MANE Select ENSP00000475177.1:p.Gln713Leu
ENST00000374316.9:c.2138A>T ENSP00000363435.4:p.Gln713Leu
ENST00000605930.2:c.2138A>T ENSP00000475177.1:p.Gln713Leu
NM_002224.3:c.2138A>T NP_002215.2:p.Gln713Leu
XM_011514576.1:c.2207A>T XP_011512878.1:p.Gln736Leu
XM_011514577.1:c.1955A>T XP_011512879.1:p.Gln652Leu
XM_011514577.3:c.1955A>T XP_011512879.1:p.Gln652Leu
XM_017010832.1:c.2138A>T XP_016866321.1:p.Gln713Leu
NM_002224.4:c.2138A>T MANE Select NP_002215.2:p.Gln713Leu
Search 100 bp 5'
Search 100 bp 3'