Canonical Allele Identifier: CA3760917
Community Standard Title: NM_002224.4(ITPR3):c.3448-19T>A
Gene: ITPR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33676996T>A , CM000668.2:g.33676996T>A GRCh38
NC_000006.11:g.33644773T>A , CM000668.1:g.33644773T>A GRCh37
NC_000006.10:g.33752751T>A NCBI36
NG_027729.1:g.60618T>A

Transcript Alleles

HGVS Amino-acid Change
NM_002224.4:c.3448-19T>A MANE Select NP_002215.2:n.3448-19T>A
ENST00000605930.3:c.3448-19T>A MANE Select ENSP00000475177.1:n.3448-19T>A
NM_002224.3:c.3448-19T>A NP_002215.2:n.3448-19T>A
ENST00000374316.9:c.3448-19T>A ENSP00000363435.4:n.3448-19T>A
ENST00000605930.2:c.3448-19T>A ENSP00000475177.1:n.3448-19T>A
XM_011514576.1:c.3517-19T>A XP_011512878.1:n.3517-19T>A
XM_011514577.1:c.3265-19T>A XP_011512879.1:n.3265-19T>A
XM_011514577.3:c.3265-19T>A XP_011512879.1:n.3265-19T>A
XM_017010832.1:c.3448-19T>A XP_016866321.1:n.3448-19T>A