Canonical Allele Identifier: CA12266846

Gene: ITPR3 UQCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33694518G>C , CM000668.2:g.33694518G>C	GRCh38
NC_000006.11:g.33662295G>C , CM000668.1:g.33662295G>C	GRCh37
NC_000006.10:g.33770273G>C	NCBI36
NG_027729.1:g.78140G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002224.4:c.7786-406G>C (ITPR3) MANE Select	NP_002215.2:n.7786-406G>C
ENST00000605930.3:c.7786-406G>C (ITPR3) MANE Select	ENSP00000475177.1:n.7786-406G>C
NM_002224.3:c.7786-406G>C (ITPR3)	NP_002215.2:n.7786-406G>C
ENST00000374316.9:c.7786-406G>C (ITPR3)	ENSP00000363435.4:n.7786-406G>C
ENST00000605930.2:c.7786-406G>C (ITPR3)	ENSP00000475177.1:n.7786-406G>C
ENST00000606961.1:n.4140C>G (UQCC2)
XM_011514576.1:c.7855-406G>C (ITPR3)	XP_011512878.1:n.7855-406G>C
XM_011514577.1:c.7603-406G>C (ITPR3)	XP_011512879.1:n.7603-406G>C
XM_011514577.3:c.7603-406G>C (ITPR3)	XP_011512879.1:n.7603-406G>C