Canonical Allele Identifier: CA12266836
Gene: ITPR3 HGNC NCBI

Linked Data

gnomAD v2: 6-33588147-C-T
gnomAD v3: 6-33620370-C-T
gnomAD v4: 6-33620370-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33620370C>T , CM000668.2:g.33620370C>T GRCh38
NC_000006.11:g.33588147C>T , CM000668.1:g.33588147C>T GRCh37
NC_000006.10:g.33696125C>T NCBI36
NG_027729.1:g.3992C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374316.9:c.-1055C>T ENSP00000363435.4:n.-1055C>T