Canonical Allele Identifier: CA2578586516
Gene: ITPR3 HGNC NCBI

Linked Data

gnomAD v4: 6-33668886-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33668886G>A , CM000668.2:g.33668886G>A GRCh38
NC_000006.11:g.33636663G>A , CM000668.1:g.33636663G>A GRCh37
NC_000006.10:g.33744641G>A NCBI36
NG_027729.1:g.52508G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000605930.3:c.2007-88G>A MANE Select ENSP00000475177.1:n.2007-88G>A
ENST00000374316.9:c.2007-88G>A ENSP00000363435.4:n.2007-88G>A
ENST00000605930.2:c.2007-88G>A ENSP00000475177.1:n.2007-88G>A
NM_002224.3:c.2007-88G>A NP_002215.2:n.2007-88G>A
XM_011514576.1:c.2076-88G>A XP_011512878.1:n.2076-88G>A
XM_011514577.1:c.1824-88G>A XP_011512879.1:n.1824-88G>A
XM_011514577.3:c.1824-88G>A XP_011512879.1:n.1824-88G>A
XM_017010832.1:c.2007-88G>A XP_016866321.1:n.2007-88G>A
NM_002224.4:c.2007-88G>A MANE Select NP_002215.2:n.2007-88G>A