Canonical Allele Identifier: CA449883108
Gene: ITPR3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33636886G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669109G>A , CM000668.2:g.33669109G>A GRCh38
NC_000006.11:g.33636886G>A , CM000668.1:g.33636886G>A GRCh37
NC_000006.10:g.33744864G>A NCBI36
NG_027729.1:g.52731G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2142G>A MANE Select ENSP00000475177.1:p.Glu714=
ENST00000374316.9:c.2142G>A ENSP00000363435.4:p.Glu714=
ENST00000605930.2:c.2142G>A ENSP00000475177.1:p.Glu714=
NM_002224.3:c.2142G>A NP_002215.2:p.Glu714=
XM_011514576.1:c.2211G>A XP_011512878.1:p.Glu737=
XM_011514577.1:c.1959G>A XP_011512879.1:p.Glu653=
XM_011514577.3:c.1959G>A XP_011512879.1:p.Glu653=
XM_017010832.1:c.2142G>A XP_016866321.1:p.Glu714=
NM_002224.4:c.2142G>A MANE Select NP_002215.2:p.Glu714=