Canonical Allele Identifier: CA449883006

Gene: ITPR3

Linked Data

• dbSNP Id: rs1443302050
• gnomAD v3: 6-33669079-T-C
• gnomAD v4: 6-33669079-T-C
• MyVariant Identifiers: chr6:g.33636856T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669079T>C , CM000668.2:g.33669079T>C	GRCh38
NC_000006.11:g.33636856T>C , CM000668.1:g.33636856T>C	GRCh37
NC_000006.10:g.33744834T>C	NCBI36
NG_027729.1:g.52701T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2112T>C MANE Select	ENSP00000475177.1:p.His704=
ENST00000374316.9:c.2112T>C	ENSP00000363435.4:p.His704=
ENST00000605930.2:c.2112T>C	ENSP00000475177.1:p.His704=
NM_002224.3:c.2112T>C	NP_002215.2:p.His704=
XM_011514576.1:c.2181T>C	XP_011512878.1:p.His727=
XM_011514577.1:c.1929T>C	XP_011512879.1:p.His643=
XM_011514577.3:c.1929T>C	XP_011512879.1:p.His643=
XM_017010832.1:c.2112T>C	XP_016866321.1:p.His704=
NM_002224.4:c.2112T>C MANE Select	NP_002215.2:p.His704=