Canonical Allele Identifier: CA3760484
Gene: ITPR3 HGNC NCBI

Linked Data

dbSNP Id: rs376933400
ExAC: 6:33636895 C / A
gnomAD v2: 6-33636895-C-A
gnomAD v3: 6-33669118-C-A
gnomAD v4: 6-33669118-C-A
MyVariant Identifiers: chr6:g.33636895C>A (hg19) chr6:g.33669118C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669118C>A , CM000668.2:g.33669118C>A GRCh38
NC_000006.11:g.33636895C>A , CM000668.1:g.33636895C>A GRCh37
NC_000006.10:g.33744873C>A NCBI36
NG_027729.1:g.52740C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2151C>A MANE Select ENSP00000475177.1:p.Ala717=
ENST00000374316.9:c.2151C>A ENSP00000363435.4:p.Ala717=
ENST00000605930.2:c.2151C>A ENSP00000475177.1:p.Ala717=
NM_002224.3:c.2151C>A NP_002215.2:p.Ala717=
XM_011514576.1:c.2220C>A XP_011512878.1:p.Ala740=
XM_011514577.1:c.1968C>A XP_011512879.1:p.Ala656=
XM_011514577.3:c.1968C>A XP_011512879.1:p.Ala656=
XM_017010832.1:c.2151C>A XP_016866321.1:p.Ala717=
NM_002224.4:c.2151C>A MANE Select NP_002215.2:p.Ala717=
Search 100 bp 5'
Search 100 bp 3'