Canonical Allele Identifier: CA2578586522
Gene: ITPR3 HGNC NCBI

Linked Data

gnomAD v4: 6-33668913-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33668913A>G , CM000668.2:g.33668913A>G GRCh38
NC_000006.11:g.33636690A>G , CM000668.1:g.33636690A>G GRCh37
NC_000006.10:g.33744668A>G NCBI36
NG_027729.1:g.52535A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000605930.3:c.2007-61A>G MANE Select ENSP00000475177.1:n.2007-61A>G
ENST00000374316.9:c.2007-61A>G ENSP00000363435.4:n.2007-61A>G
ENST00000605930.2:c.2007-61A>G ENSP00000475177.1:n.2007-61A>G
NM_002224.3:c.2007-61A>G NP_002215.2:n.2007-61A>G
XM_011514576.1:c.2076-61A>G XP_011512878.1:n.2076-61A>G
XM_011514577.1:c.1824-61A>G XP_011512879.1:n.1824-61A>G
XM_011514577.3:c.1824-61A>G XP_011512879.1:n.1824-61A>G
XM_017010832.1:c.2007-61A>G XP_016866321.1:n.2007-61A>G
NM_002224.4:c.2007-61A>G MANE Select NP_002215.2:n.2007-61A>G