Canonical Allele Identifier: CA363697996

Gene: ITPR3

Linked Data

• MyVariant Identifiers: chr6:g.33636863A>T (hg19) ; chr6:g.33669086A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2119A>T MANE Select	ENSP00000475177.1:p.Ser707Cys
ENST00000374316.9:c.2119A>T	ENSP00000363435.4:p.Ser707Cys
ENST00000605930.2:c.2119A>T	ENSP00000475177.1:p.Ser707Cys
NM_002224.3:c.2119A>T	NP_002215.2:p.Ser707Cys
XM_011514576.1:c.2188A>T	XP_011512878.1:p.Ser730Cys
XM_011514577.1:c.1936A>T	XP_011512879.1:p.Ser646Cys
XM_011514577.3:c.1936A>T	XP_011512879.1:p.Ser646Cys
XM_017010832.1:c.2119A>T	XP_016866321.1:p.Ser707Cys
NM_002224.4:c.2119A>T MANE Select	NP_002215.2:p.Ser707Cys