Canonical Allele Identifier: CA363697535
Gene: ITPR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33668985T>A , CM000668.2:g.33668985T>A GRCh38
NC_000006.11:g.33636762T>A , CM000668.1:g.33636762T>A GRCh37
NC_000006.10:g.33744740T>A NCBI36
NG_027729.1:g.52607T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2018T>A MANE Select ENSP00000475177.1:p.Val673Glu
ENST00000374316.9:c.2018T>A ENSP00000363435.4:p.Val673Glu
ENST00000605930.2:c.2018T>A ENSP00000475177.1:p.Val673Glu
NM_002224.3:c.2018T>A NP_002215.2:p.Val673Glu
XM_011514576.1:c.2087T>A XP_011512878.1:p.Val696Glu
XM_011514577.1:c.1835T>A XP_011512879.1:p.Val612Glu
XM_011514577.3:c.1835T>A XP_011512879.1:p.Val612Glu
XM_017010832.1:c.2018T>A XP_016866321.1:p.Val673Glu
NM_002224.4:c.2018T>A MANE Select NP_002215.2:p.Val673Glu