Canonical Allele Identifier: CA137161817
Gene: ITPR3 HGNC NCBI
UQCC2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.33694518G>A
GRCh37 chr6:g.33662295G>A
gnomAD v2:
6:33662295 G / A
gnomAD v3:
6:33694518 G / A
gnomAD v4:
chr6-33694518-G-A
Joint Max Group AF 0.00253866 (AFR)
Genomes Max Group AF 0.00253735 (AFR)
Exomes Max Group AF 0.0007722 (AFR)
dbSNP:
3227
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33694518G>A , CM000668.2:g.33694518G>A GRCh38
NC_000006.11:g.33662295G>A , CM000668.1:g.33662295G>A GRCh37
NC_000006.10:g.33770273G>A NCBI36
NG_027729.1:g.78140G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.7786-406G>A (ITPR3) MANE Select ENSP00000475177.1:n.7786-406G>A
ENST00000374316.9:c.7786-406G>A (ITPR3) ENSP00000363435.4:n.7786-406G>A
ENST00000605930.2:c.7786-406G>A (ITPR3) ENSP00000475177.1:n.7786-406G>A
ENST00000606961.1:n.4140C>T (UQCC2)
NM_002224.3:c.7786-406G>A (ITPR3) NP_002215.2:n.7786-406G>A
XM_011514576.1:c.7855-406G>A (ITPR3) XP_011512878.1:n.7855-406G>A
XM_011514577.1:c.7603-406G>A (ITPR3) XP_011512879.1:n.7603-406G>A
XM_011514577.3:c.7603-406G>A (ITPR3) XP_011512879.1:n.7603-406G>A
NM_002224.4:c.7786-406G>A (ITPR3) MANE Select NP_002215.2:n.7786-406G>A
Search 100 bp 5'
Search 100 bp 3'