Canonical Allele Identifier: CA449883053
Gene: ITPR3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33636869A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669092A>C , CM000668.2:g.33669092A>C GRCh38
NC_000006.11:g.33636869A>C , CM000668.1:g.33636869A>C GRCh37
NC_000006.10:g.33744847A>C NCBI36
NG_027729.1:g.52714A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2125A>C MANE Select ENSP00000475177.1:p.Arg709=
ENST00000374316.9:c.2125A>C ENSP00000363435.4:p.Arg709=
ENST00000605930.2:c.2125A>C ENSP00000475177.1:p.Arg709=
NM_002224.3:c.2125A>C NP_002215.2:p.Arg709=
XM_011514576.1:c.2194A>C XP_011512878.1:p.Arg732=
XM_011514577.1:c.1942A>C XP_011512879.1:p.Arg648=
XM_011514577.3:c.1942A>C XP_011512879.1:p.Arg648=
XM_017010832.1:c.2125A>C XP_016866321.1:p.Arg709=
NM_002224.4:c.2125A>C MANE Select NP_002215.2:p.Arg709=