Canonical Allele Identifier: CA3760476

Gene: ITPR3

Linked Data

• dbSNP Id: rs754604438
• ExAC: 6:33636867 T / C
• gnomAD v2: 6-33636867-T-C
• gnomAD v4: 6-33669090-T-C
• MyVariant Identifiers: chr6:g.33636867T>C (hg19) ; chr6:g.33669090T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669090T>C , CM000668.2:g.33669090T>C	GRCh38
NC_000006.11:g.33636867T>C , CM000668.1:g.33636867T>C	GRCh37
NC_000006.10:g.33744845T>C	NCBI36
NG_027729.1:g.52712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2123T>C MANE Select	ENSP00000475177.1:p.Val708Ala
ENST00000374316.9:c.2123T>C	ENSP00000363435.4:p.Val708Ala
ENST00000605930.2:c.2123T>C	ENSP00000475177.1:p.Val708Ala
NM_002224.3:c.2123T>C	NP_002215.2:p.Val708Ala
XM_011514576.1:c.2192T>C	XP_011512878.1:p.Val731Ala
XM_011514577.1:c.1940T>C	XP_011512879.1:p.Val647Ala
XM_011514577.3:c.1940T>C	XP_011512879.1:p.Val647Ala
XM_017010832.1:c.2123T>C	XP_016866321.1:p.Val708Ala
NM_002224.4:c.2123T>C MANE Select	NP_002215.2:p.Val708Ala