Canonical Allele Identifier: CA3760462

Gene: ITPR3

Linked Data

• dbSNP Id: rs771821549
• ExAC: 6:33636780 C / T
• gnomAD v2: 6-33636780-C-T
• gnomAD v4: 6-33669003-C-T
• MyVariant Identifiers: chr6:g.33636780C>T (hg19) ; chr6:g.33669003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669003C>T , CM000668.2:g.33669003C>T	GRCh38
NC_000006.11:g.33636780C>T , CM000668.1:g.33636780C>T	GRCh37
NC_000006.10:g.33744758C>T	NCBI36
NG_027729.1:g.52625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2036C>T MANE Select	ENSP00000475177.1:p.Ser679Phe
ENST00000374316.9:c.2036C>T	ENSP00000363435.4:p.Ser679Phe
ENST00000605930.2:c.2036C>T	ENSP00000475177.1:p.Ser679Phe
NM_002224.3:c.2036C>T	NP_002215.2:p.Ser679Phe
XM_011514576.1:c.2105C>T	XP_011512878.1:p.Ser702Phe
XM_011514577.1:c.1853C>T	XP_011512879.1:p.Ser618Phe
XM_011514577.3:c.1853C>T	XP_011512879.1:p.Ser618Phe
XM_017010832.1:c.2036C>T	XP_016866321.1:p.Ser679Phe
NM_002224.4:c.2036C>T MANE Select	NP_002215.2:p.Ser679Phe