Canonical Allele Identifier: CA3760480
Gene: ITPR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2397262
ClinVar RCV Id: RCV004228992
dbSNP Id: rs771869292
ExAC: 6:33636888 C / T
gnomAD v2: 6-33636888-C-T
gnomAD v4: 6-33669111-C-T
MyVariant Identifiers: chr6:g.33636888C>T (hg19) chr6:g.33669111C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669111C>T , CM000668.2:g.33669111C>T GRCh38
NC_000006.11:g.33636888C>T , CM000668.1:g.33636888C>T GRCh37
NC_000006.10:g.33744866C>T NCBI36
NG_027729.1:g.52733C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2144C>T MANE Select ENSP00000475177.1:p.Ala715Val
ENST00000374316.9:c.2144C>T ENSP00000363435.4:p.Ala715Val
ENST00000605930.2:c.2144C>T ENSP00000475177.1:p.Ala715Val
NM_002224.3:c.2144C>T NP_002215.2:p.Ala715Val
XM_011514576.1:c.2213C>T XP_011512878.1:p.Ala738Val
XM_011514577.1:c.1961C>T XP_011512879.1:p.Ala654Val
XM_011514577.3:c.1961C>T XP_011512879.1:p.Ala654Val
XM_017010832.1:c.2144C>T XP_016866321.1:p.Ala715Val
NM_002224.4:c.2144C>T MANE Select NP_002215.2:p.Ala715Val
Search 100 bp 5'
Search 100 bp 3'