Canonical Allele Identifier: CA363698040
Gene: ITPR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669096A>G , CM000668.2:g.33669096A>G GRCh38
NC_000006.11:g.33636873A>G , CM000668.1:g.33636873A>G GRCh37
NC_000006.10:g.33744851A>G NCBI36
NG_027729.1:g.52718A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2129A>G MANE Select ENSP00000475177.1:p.Gln710Arg
ENST00000374316.9:c.2129A>G ENSP00000363435.4:p.Gln710Arg
ENST00000605930.2:c.2129A>G ENSP00000475177.1:p.Gln710Arg
NM_002224.3:c.2129A>G NP_002215.2:p.Gln710Arg
XM_011514576.1:c.2198A>G XP_011512878.1:p.Gln733Arg
XM_011514577.1:c.1946A>G XP_011512879.1:p.Gln649Arg
XM_011514577.3:c.1946A>G XP_011512879.1:p.Gln649Arg
XM_017010832.1:c.2129A>G XP_016866321.1:p.Gln710Arg
NM_002224.4:c.2129A>G MANE Select NP_002215.2:p.Gln710Arg