Canonical Allele Identifier: CA363697899

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33669066-A-G
• MyVariant Identifiers: chr6:g.33636843A>G (hg19) ; chr6:g.33669066A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669066A>G , CM000668.2:g.33669066A>G	GRCh38
NC_000006.11:g.33636843A>G , CM000668.1:g.33636843A>G	GRCh37
NC_000006.10:g.33744821A>G	NCBI36
NG_027729.1:g.52688A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2099A>G MANE Select	ENSP00000475177.1:p.Asn700Ser
ENST00000374316.9:c.2099A>G	ENSP00000363435.4:p.Asn700Ser
ENST00000605930.2:c.2099A>G	ENSP00000475177.1:p.Asn700Ser
NM_002224.3:c.2099A>G	NP_002215.2:p.Asn700Ser
XM_011514576.1:c.2168A>G	XP_011512878.1:p.Asn723Ser
XM_011514577.1:c.1916A>G	XP_011512879.1:p.Asn639Ser
XM_011514577.3:c.1916A>G	XP_011512879.1:p.Asn639Ser
XM_017010832.1:c.2099A>G	XP_016866321.1:p.Asn700Ser
NM_002224.4:c.2099A>G MANE Select	NP_002215.2:p.Asn700Ser