Canonical Allele Identifier: CA363697531

Gene: ITPR3

Linked Data

• dbSNP Id: rs375749310
• gnomAD v3: 6-33668984-G-C
• gnomAD v4: 6-33668984-G-C
• MyVariant Identifiers: chr6:g.33636761G>C (hg19) ; chr6:g.33668984G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33668984G>C , CM000668.2:g.33668984G>C	GRCh38
NC_000006.11:g.33636761G>C , CM000668.1:g.33636761G>C	GRCh37
NC_000006.10:g.33744739G>C	NCBI36
NG_027729.1:g.52606G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2017G>C MANE Select	ENSP00000475177.1:p.Val673Leu
ENST00000374316.9:c.2017G>C	ENSP00000363435.4:p.Val673Leu
ENST00000605930.2:c.2017G>C	ENSP00000475177.1:p.Val673Leu
NM_002224.3:c.2017G>C	NP_002215.2:p.Val673Leu
XM_011514576.1:c.2086G>C	XP_011512878.1:p.Val696Leu
XM_011514577.1:c.1834G>C	XP_011512879.1:p.Val612Leu
XM_011514577.3:c.1834G>C	XP_011512879.1:p.Val612Leu
XM_017010832.1:c.2017G>C	XP_016866321.1:p.Val673Leu
NM_002224.4:c.2017G>C MANE Select	NP_002215.2:p.Val673Leu