Canonical Allele Identifier: CA449882536
Gene: ITPR3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33636781C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669004C>T , CM000668.2:g.33669004C>T GRCh38
NC_000006.11:g.33636781C>T , CM000668.1:g.33636781C>T GRCh37
NC_000006.10:g.33744759C>T NCBI36
NG_027729.1:g.52626C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2037C>T MANE Select ENSP00000475177.1:p.Ser679=
ENST00000374316.9:c.2037C>T ENSP00000363435.4:p.Ser679=
ENST00000605930.2:c.2037C>T ENSP00000475177.1:p.Ser679=
NM_002224.3:c.2037C>T NP_002215.2:p.Ser679=
XM_011514576.1:c.2106C>T XP_011512878.1:p.Ser702=
XM_011514577.1:c.1854C>T XP_011512879.1:p.Ser618=
XM_011514577.3:c.1854C>T XP_011512879.1:p.Ser618=
XM_017010832.1:c.2037C>T XP_016866321.1:p.Ser679=
NM_002224.4:c.2037C>T MANE Select NP_002215.2:p.Ser679=