Canonical Allele Identifier: CA824071234
Gene: ITPR3 HGNC NCBI

Linked Data

dbSNP Id: rs890110092
gnomAD v3: 6-33668834-C-G
gnomAD v4: 6-33668834-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33668834C>G , CM000668.2:g.33668834C>G GRCh38
NC_000006.11:g.33636611C>G , CM000668.1:g.33636611C>G GRCh37
NC_000006.10:g.33744589C>G NCBI36
NG_027729.1:g.52456C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000605930.3:c.2007-140C>G MANE Select ENSP00000475177.1:n.2007-140C>G
ENST00000374316.9:c.2007-140C>G ENSP00000363435.4:n.2007-140C>G
ENST00000605930.2:c.2007-140C>G ENSP00000475177.1:n.2007-140C>G
NM_002224.3:c.2007-140C>G NP_002215.2:n.2007-140C>G
XM_011514576.1:c.2076-140C>G XP_011512878.1:n.2076-140C>G
XM_011514577.1:c.1824-140C>G XP_011512879.1:n.1824-140C>G
XM_011514577.3:c.1824-140C>G XP_011512879.1:n.1824-140C>G
XM_017010832.1:c.2007-140C>G XP_016866321.1:n.2007-140C>G
NM_002224.4:c.2007-140C>G MANE Select NP_002215.2:n.2007-140C>G