Canonical Allele Identifier: CA363697815
Gene: ITPR3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33636825T>C (hg19) chr6:g.33669048T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669048T>C , CM000668.2:g.33669048T>C GRCh38
NC_000006.11:g.33636825T>C , CM000668.1:g.33636825T>C GRCh37
NC_000006.10:g.33744803T>C NCBI36
NG_027729.1:g.52670T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2081T>C MANE Select ENSP00000475177.1:p.Leu694Pro
ENST00000374316.9:c.2081T>C ENSP00000363435.4:p.Leu694Pro
ENST00000605930.2:c.2081T>C ENSP00000475177.1:p.Leu694Pro
NM_002224.3:c.2081T>C NP_002215.2:p.Leu694Pro
XM_011514576.1:c.2150T>C XP_011512878.1:p.Leu717Pro
XM_011514577.1:c.1898T>C XP_011512879.1:p.Leu633Pro
XM_011514577.3:c.1898T>C XP_011512879.1:p.Leu633Pro
XM_017010832.1:c.2081T>C XP_016866321.1:p.Leu694Pro
NM_002224.4:c.2081T>C MANE Select NP_002215.2:p.Leu694Pro
Search 100 bp 5'
Search 100 bp 3'