Canonical Allele Identifier: CA363698114
Gene: ITPR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669116G>C , CM000668.2:g.33669116G>C GRCh38
NC_000006.11:g.33636893G>C , CM000668.1:g.33636893G>C GRCh37
NC_000006.10:g.33744871G>C NCBI36
NG_027729.1:g.52738G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2149G>C MANE Select ENSP00000475177.1:p.Ala717Pro
ENST00000374316.9:c.2149G>C ENSP00000363435.4:p.Ala717Pro
ENST00000605930.2:c.2149G>C ENSP00000475177.1:p.Ala717Pro
NM_002224.3:c.2149G>C NP_002215.2:p.Ala717Pro
XM_011514576.1:c.2218G>C XP_011512878.1:p.Ala740Pro
XM_011514577.1:c.1966G>C XP_011512879.1:p.Ala656Pro
XM_011514577.3:c.1966G>C XP_011512879.1:p.Ala656Pro
XM_017010832.1:c.2149G>C XP_016866321.1:p.Ala717Pro
NM_002224.4:c.2149G>C MANE Select NP_002215.2:p.Ala717Pro