Canonical Allele Identifier: CA12266846
Gene: ITPR3 HGNC NCBI
UQCC2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.33694518G>C
GRCh37 chr6:g.33662295G>C
gnomAD v2:
6:33662295 G / C
gnomAD v3:
6:33694518 G / C
gnomAD v4:
chr6-33694518-G-C
Joint Max Group AF 0.84086777 (EAS)
Genomes Max Group AF 0.84240885 (EAS)
Exomes Max Group AF 0.80189548 (EAS)
dbSNP:
3227
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.7786-406G>C (ITPR3) MANE Select ENSP00000475177.1:n.7786-406G>C
ENST00000374316.9:c.7786-406G>C (ITPR3) ENSP00000363435.4:n.7786-406G>C
ENST00000605930.2:c.7786-406G>C (ITPR3) ENSP00000475177.1:n.7786-406G>C
ENST00000606961.1:n.4140C>G (UQCC2)
NM_002224.3:c.7786-406G>C (ITPR3) NP_002215.2:n.7786-406G>C
XM_011514576.1:c.7855-406G>C (ITPR3) XP_011512878.1:n.7855-406G>C
XM_011514577.1:c.7603-406G>C (ITPR3) XP_011512879.1:n.7603-406G>C
XM_011514577.3:c.7603-406G>C (ITPR3) XP_011512879.1:n.7603-406G>C
NM_002224.4:c.7786-406G>C (ITPR3) MANE Select NP_002215.2:n.7786-406G>C
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