Canonical Allele Identifier: CA566432123
Gene: ITPR3 HGNC NCBI

Linked Data

dbSNP Id: rs1454997714
gnomAD v2: 6-33617990-G-A
gnomAD v3: 6-33650213-G-A
gnomAD v4: 6-33650213-G-A
MyVariant Identifiers: chr6:g.33617990G>A (hg19) chr6:g.33650213G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33650213G>A , CM000668.2:g.33650213G>A GRCh38
NC_000006.11:g.33617990G>A , CM000668.1:g.33617990G>A GRCh37
NC_000006.10:g.33725968G>A NCBI36
NG_027729.1:g.33835G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000605930.3:c.161-5553G>A MANE Select ENSP00000475177.1:n.161-5553G>A
ENST00000374316.9:c.161-5553G>A ENSP00000363435.4:n.161-5553G>A
ENST00000605930.2:c.161-5553G>A ENSP00000475177.1:n.161-5553G>A
NM_002224.3:c.161-5553G>A NP_002215.2:n.161-5553G>A
XM_011514576.1:c.230-5553G>A XP_011512878.1:n.230-5553G>A
XM_017010832.1:c.161-5553G>A XP_016866321.1:n.161-5553G>A
NM_002224.4:c.161-5553G>A MANE Select NP_002215.2:n.161-5553G>A
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