Canonical Allele Identifier: CA137114674
Gene: ITPR3 HGNC NCBI

Linked Data

dbSNP Id: rs555163406
gnomAD v3: 6-33650379-A-G
gnomAD v4: 6-33650379-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33650379A>G , CM000668.2:g.33650379A>G GRCh38
NC_000006.11:g.33618156A>G , CM000668.1:g.33618156A>G GRCh37
NC_000006.10:g.33726134A>G NCBI36
NG_027729.1:g.34001A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.161-5387A>G MANE Select ENSP00000475177.1:n.161-5387A>G
ENST00000374316.9:c.161-5387A>G ENSP00000363435.4:n.161-5387A>G
ENST00000605930.2:c.161-5387A>G ENSP00000475177.1:n.161-5387A>G
NM_002224.3:c.161-5387A>G NP_002215.2:n.161-5387A>G
XM_011514576.1:c.230-5387A>G XP_011512878.1:n.230-5387A>G
XM_017010832.1:c.161-5387A>G XP_016866321.1:n.161-5387A>G
NM_002224.4:c.161-5387A>G MANE Select NP_002215.2:n.161-5387A>G