Canonical Allele Identifier: CA2678292781
Gene: ITPR3 HGNC NCBI

Linked Data

gnomAD v4: 6-33668905-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33668905G>C , CM000668.2:g.33668905G>C GRCh38
NC_000006.11:g.33636682G>C , CM000668.1:g.33636682G>C GRCh37
NC_000006.10:g.33744660G>C NCBI36
NG_027729.1:g.52527G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2007-69G>C MANE Select ENSP00000475177.1:n.2007-69G>C
ENST00000374316.9:c.2007-69G>C ENSP00000363435.4:n.2007-69G>C
ENST00000605930.2:c.2007-69G>C ENSP00000475177.1:n.2007-69G>C
NM_002224.3:c.2007-69G>C NP_002215.2:n.2007-69G>C
XM_011514576.1:c.2076-69G>C XP_011512878.1:n.2076-69G>C
XM_011514577.1:c.1824-69G>C XP_011512879.1:n.1824-69G>C
XM_011514577.3:c.1824-69G>C XP_011512879.1:n.1824-69G>C
XM_017010832.1:c.2007-69G>C XP_016866321.1:n.2007-69G>C
NM_002224.4:c.2007-69G>C MANE Select NP_002215.2:n.2007-69G>C