Canonical Allele Identifier: CA1620125327
Community Standard Title: NM_002224.4(ITPR3):c.7786-406G=

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33694518G= , CM000668.2:g.33694518G= GRCh38
NC_000006.11:g.33662295G= , CM000668.1:g.33662295G= GRCh37
NC_000006.10:g.33770273G= NCBI36
NG_027729.1:g.78140G=

Transcript Alleles

HGVS Amino-acid Change
NM_002224.4:c.7786-406G= (ITPR3) MANE Select NP_002215.2:n.7786-406G=
ENST00000605930.3:c.7786-406G= (ITPR3) MANE Select ENSP00000475177.1:n.7786-406G=
NM_002224.3:c.7786-406G= (ITPR3) NP_002215.2:n.7786-406G=
ENST00000374316.9:c.7786-406G= (ITPR3) ENSP00000363435.4:n.7786-406G=
ENST00000605930.2:c.7786-406G= (ITPR3) ENSP00000475177.1:n.7786-406G=
ENST00000606961.1:n.4140C= (UQCC2)
XM_011514576.1:c.7855-406G= (ITPR3) XP_011512878.1:n.7855-406G=
XM_011514577.1:c.7603-406G= (ITPR3) XP_011512879.1:n.7603-406G=
XM_011514577.3:c.7603-406G= (ITPR3) XP_011512879.1:n.7603-406G=