Canonical Allele Identifier: CA363697632
Gene: ITPR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669007C>A , CM000668.2:g.33669007C>A GRCh38
NC_000006.11:g.33636784C>A , CM000668.1:g.33636784C>A GRCh37
NC_000006.10:g.33744762C>A NCBI36
NG_027729.1:g.52629C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2040C>A MANE Select ENSP00000475177.1:p.His680Gln
ENST00000374316.9:c.2040C>A ENSP00000363435.4:p.His680Gln
ENST00000605930.2:c.2040C>A ENSP00000475177.1:p.His680Gln
NM_002224.3:c.2040C>A NP_002215.2:p.His680Gln
XM_011514576.1:c.2109C>A XP_011512878.1:p.His703Gln
XM_011514577.1:c.1857C>A XP_011512879.1:p.His619Gln
XM_011514577.3:c.1857C>A XP_011512879.1:p.His619Gln
XM_017010832.1:c.2040C>A XP_016866321.1:p.His680Gln
NM_002224.4:c.2040C>A MANE Select NP_002215.2:p.His680Gln