Canonical Allele Identifier: CA363697995

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33669086-A-G
• MyVariant Identifiers: chr6:g.33636863A>G (hg19) ; chr6:g.33669086A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669086A>G , CM000668.2:g.33669086A>G	GRCh38
NC_000006.11:g.33636863A>G , CM000668.1:g.33636863A>G	GRCh37
NC_000006.10:g.33744841A>G	NCBI36
NG_027729.1:g.52708A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2119A>G MANE Select	ENSP00000475177.1:p.Ser707Gly
ENST00000374316.9:c.2119A>G	ENSP00000363435.4:p.Ser707Gly
ENST00000605930.2:c.2119A>G	ENSP00000475177.1:p.Ser707Gly
NM_002224.3:c.2119A>G	NP_002215.2:p.Ser707Gly
XM_011514576.1:c.2188A>G	XP_011512878.1:p.Ser730Gly
XM_011514577.1:c.1936A>G	XP_011512879.1:p.Ser646Gly
XM_011514577.3:c.1936A>G	XP_011512879.1:p.Ser646Gly
XM_017010832.1:c.2119A>G	XP_016866321.1:p.Ser707Gly
NM_002224.4:c.2119A>G MANE Select	NP_002215.2:p.Ser707Gly