Canonical Allele Identifier: CA363697978
Gene: ITPR3 HGNC NCBI

Linked Data

gnomAD v4: 6-33669083-A-C
MyVariant Identifiers: chr6:g.33636860A>C (hg19) chr6:g.33669083A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669083A>C , CM000668.2:g.33669083A>C GRCh38
NC_000006.11:g.33636860A>C , CM000668.1:g.33636860A>C GRCh37
NC_000006.10:g.33744838A>C NCBI36
NG_027729.1:g.52705A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2116A>C MANE Select ENSP00000475177.1:p.Lys706Gln
ENST00000374316.9:c.2116A>C ENSP00000363435.4:p.Lys706Gln
ENST00000605930.2:c.2116A>C ENSP00000475177.1:p.Lys706Gln
NM_002224.3:c.2116A>C NP_002215.2:p.Lys706Gln
XM_011514576.1:c.2185A>C XP_011512878.1:p.Lys729Gln
XM_011514577.1:c.1933A>C XP_011512879.1:p.Lys645Gln
XM_011514577.3:c.1933A>C XP_011512879.1:p.Lys645Gln
XM_017010832.1:c.2116A>C XP_016866321.1:p.Lys706Gln
NM_002224.4:c.2116A>C MANE Select NP_002215.2:p.Lys706Gln
Search 100 bp 5'
Search 100 bp 3'