Canonical Allele Identifier: CA12189336
Gene: ITPR3 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.33668883C>G
GRCh37 chr6:g.33636660C>G
gnomAD v2:
6:33636660 C / G
gnomAD v3:
6:33668883 C / G
gnomAD v4:
chr6-33668883-C-G
Joint Max Group AF 0.50195813 (SAS)
Genomes Max Group AF 0.4947889 (SAS)
Exomes Max Group AF 0.50145118 (SAS)
ClinVar Allele:
1235816
ClinVar RCV:
RCV001656499
ClinVar Variation:
1247153
dbSNP:
2296336
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33668883C>G , CM000668.2:g.33668883C>G GRCh38
NC_000006.11:g.33636660C>G , CM000668.1:g.33636660C>G GRCh37
NC_000006.10:g.33744638C>G NCBI36
NG_027729.1:g.52505C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2007-91C>G MANE Select ENSP00000475177.1:n.2007-91C>G
ENST00000374316.9:c.2007-91C>G ENSP00000363435.4:n.2007-91C>G
ENST00000605930.2:c.2007-91C>G ENSP00000475177.1:n.2007-91C>G
NM_002224.3:c.2007-91C>G NP_002215.2:n.2007-91C>G
XM_011514576.1:c.2076-91C>G XP_011512878.1:n.2076-91C>G
XM_011514577.1:c.1824-91C>G XP_011512879.1:n.1824-91C>G
XM_011514577.3:c.1824-91C>G XP_011512879.1:n.1824-91C>G
XM_017010832.1:c.2007-91C>G XP_016866321.1:n.2007-91C>G
NM_002224.4:c.2007-91C>G MANE Select NP_002215.2:n.2007-91C>G
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