Canonical Allele Identifier: CA12293608
Gene: ITPR3 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.33691269G>A
GRCh37 chr6:g.33659046G>A
gnomAD v2:
6:33659046 G / A
gnomAD v3:
6:33691269 G / A
gnomAD v4:
chr6-33691269-G-A
Joint Max Group AF 0.87798279 (EAS)
Genomes Max Group AF 0.87798279 (EAS)
ClinVar RCV:
RCV001639714
ClinVar Variation:
1238783
dbSNP:
4711336
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33691269G>A , CM000668.2:g.33691269G>A GRCh38
NC_000006.11:g.33659046G>A , CM000668.1:g.33659046G>A GRCh37
NC_000006.10:g.33767024G>A NCBI36
NG_027729.1:g.74891G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.7225+160G>A MANE Select ENSP00000475177.1:n.7225+160G>A
ENST00000374316.9:c.7225+160G>A ENSP00000363435.4:n.7225+160G>A
ENST00000605930.2:c.7225+160G>A ENSP00000475177.1:n.7225+160G>A
NM_002224.3:c.7225+160G>A NP_002215.2:n.7225+160G>A
XM_011514576.1:c.7294+160G>A XP_011512878.1:n.7294+160G>A
XM_011514577.1:c.7042+160G>A XP_011512879.1:n.7042+160G>A
XM_011514577.3:c.7042+160G>A XP_011512879.1:n.7042+160G>A
NM_002224.4:c.7225+160G>A MANE Select NP_002215.2:n.7225+160G>A
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