Canonical Allele Identifier: CA12189336
Gene: ITPR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1247153
ClinVar RCV Id: RCV001656499
dbSNP Id: rs2296336

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